0000000000111861

AUTHOR

Ching-yu Cheng

showing 28 related works from this author

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

2013

The author manuscript of this article is open access and is freely available online at PubMed Central

medicine.medical_specialtyKeratoconusCorneal Pachymetrygenetic structuresthickness; keratoconus; geneGlaucomaOcular hypertensionGenome-wide association studyBiologyReal-Time Polymerase Chain ReactionKeratoconusWhite PeopleArticleCentral corneal thicknessCorneaAsian PeopleOphthalmologyCorneaOdds RatioGeneticsmedicineHumansCorneal pachymetrymedicine.diagnostic_testForkhead Box Protein O1Forkhead Transcription FactorsGlaucomaOdds ratioMicroarray Analysismedicine.diseaseConfidence intervaleye diseasesFibronectinsmedicine.anatomical_structureGenetic Locisense organsGenome-Wide Association Study
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Contributions of mean and shape of blood pressure distribution to worldwide trends and variations in raised blood pressure: A pooled analysis of 1018…

2018

Background: Change in the prevalence of raised blood pressure could be due to both shifts in the entire distribution of blood pressure (representing the combined effects of public health interventions and secular trends) and changes in its high-blood-pressure tail (representing successful clinical interventions to control blood pressure in the hypertensive population). Our aim was to quantify the contributions of these two phenomena to the worldwide trends in the prevalence of raised blood pressure. Methods: We pooled 1018 population-based studies with blood pressure measurements on 88.6 million participants from 1985 to 2016. We first calculated mean systolic blood pressure (SBP), mean dia…

systolic blood pressureSettore MED/09 - Medicina Internablood pressure measurementHEALTH EXAMINATION SURVEYSBlood Pressure ; Hypertension ; Population Health ; Global Health ; Non-communicable DiseaseEpidemiology[SDV]Life Sciences [q-bio]global healthSouth Asia//purl.org/pe-repo/ocde/ford#3.03.09 [https]kohonnut verenpaineMedicine and Health Sciencesmiddle income countrymeasurement methodskin and connective tissue diseasesVDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Kardiologi: 771Public Environmental & Occupational HealthadultPopulation healthpublic healthblood pressure regulationPublic Health Global Health Social Medicine and EpidemiologyNon-communicable diseasekansainvälinen vertailuhealth surveyagedfemalepriority journalHypertensionBlood pressuremean arterial pressureGLOBAL TRENDSSODIUM-INTAKELife Sciences & Biomedicinesurvey designhypertensionprevalenceGlobal healthUNITED-STATESURBAN COMMUNITIESArticleSECULAR TRENDSMiddle EastCentral Asiamaledisease prevalence[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemkansanterveysbloodSYSTEMATIC ANALYSIShumanverenpainetautiBlood pressure; Global health; Hypertension; Non-communicable disease; Population health; Epidemiology; public health;non-communicable diseaseScience & TechnologyPacific Oceanhigh income countrydiastolic blood pressurePacific RimBlood pressure; Global health; Hypertension; Non-communicable disease; Population healthBlood Pressure - Epidemiology - PopulationNorth Africamajor clinical studyHYPERTENSION PREVALENCEverenpaineFolkhälsovetenskap global hälsa socialmedicin och epidemiologiARTERIAL-HYPERTENSION[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologiePOTASSIUM INTAKEsense organstrend analysistrend studypopulation researchpopulation health[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologylow income country
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Trends in Prevalence of Blindness and Distance and Near Vision Impairment Over 30 Years and Contribution to the Global Burden of Disease in 2020

2020

Background: The Vision Loss Expert Group and Global Burden of Disease Study have extensively updated estimates of global vision loss burden in 2020, temporal changeover 3 decades and forecasts for 2050. Methods: A systematic review and meta-analysis was conducted of population-based datasets relevant to vision impairment (VI) from January 1980 to October 2018. Hierarchical models were fitted to estimate 2020 prevalence (with 95% uncertainty intervals, UI) of (1) mild VI (presenting visual acuity [PVA] 6/12). Findings: In 2020, an estimated 43.2 million (95% UI: 37.5-48.2 million; 55% female) people were blind, 295.3 (95% UI 267.0-325.5) million had MSVI, 257.3 (95% UI 232.2-284.7) million h…

Burden of diseasemedicine.medical_specialtyeducation.field_of_studyVisual acuityBlindnessbusiness.industryPopulationGlobal visionmedicine.diseaseExpert groupNear visionEpidemiologyMedicinemedicine.symptombusinesseducationDemographySSRN Electronic Journal
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Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

2014

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693…

MaleIntraocular pressuregenetic structuresGlaucomaGenome-wide association studyCohort Studies0302 clinical medicinePolymorphism (computer science)Risk FactorsPOPULATIONGeneticsAged 80 and overRISK0303 health scienceseducation.field_of_studyCOMMON VARIANTSASSOCIATIONMiddle AgedFemaleTRIALChromosomes Human Pair 3OPEN-ANGLE GLAUCOMAChromosomes Human Pair 9Glaucoma Open-AngleATP Binding Cassette Transporter 1AdultEXPRESSIONmedicine.medical_specialtyOpen angle glaucomaGenotypePopulationChromosome 9BiologyPolymorphism Single NucleotideArticleABO Blood-Group System03 medical and health sciencesYoung AdultMeta-Analysis as TopicOphthalmologyGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationCENTRAL CORNEAL THICKNESSIntraocular PressureMETAANALYSIS030304 developmental biologyGenetic associationAgedChromosomes Human Pair 11Glaucomamedicine.diseaseeye diseasesFibronectinsREDUCTIONGenetic Loci030221 ophthalmology & optometrysense organsGenome-Wide Association StudyNature Genetics
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New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

2017

Item does not contain fulltext Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup-disc ratio (VCDR) and 1 new region associated with IOP. Additionally, we found 5 novel loci for optic ne…

0301 basic medicineMaleIntraocular pressuregenetic structuresOptic diskGlaucomaPROTEINGenome-wide association studyIDENTIFIES 5Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Optic neuropathyOptic Nerve DiseasesPROSTATEGenetics (clinical)RISKAssociation Studies ArticlesCOMMON VARIANTSGeneral MedicineMiddle AgedCANCER3. Good healthmedicine.anatomical_structureOptic nerveFemaleGlaucoma Open-AngleOptic discCyclin-Dependent Kinase Inhibitor p21medicine.medical_specialtyOpen angle glaucomaSUSCEPTIBILITY LOCIOptic Disk610 Medicine & healthBiology03 medical and health sciencesTonometry OcularOphthalmologyGeneticsmedicineHumansGENOME-WIDE ASSOCIATIONMolecular BiologyIntraocular PressureHomeodomain ProteinsP53Genome HumanPOPULATION-BASED EPIDEMIOLOGYZebrafish Proteinsmedicine.diseaseeye diseases030104 developmental biologysense organsGenome-Wide Association StudyHuman Molecular Genetics
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Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

2021

From 1985 to 2016, the prevalence of underweight decreased, and that of obesity and severe obesity increased, in most regions, with significant variation in the magnitude of these changes across regions. We investigated how much change in mean body mass index (BMI) explains changes in the prevalence of underweight, obesity, and severe obesity in different regions using data from 2896 population-based studies with 187 million participants. Changes in the prevalence of underweight and total obesity, and to a lesser extent severe obesity, are largely driven by shifts in the distribution of BMI, with smaller contributions from changes in the shape of the distribution. In East and Southeast Asia…

Population -- Health aspectsLeannessBaixo peso/UnderweightnoneDouble burdenalipainoisuustulotasoglobal healthsystematic analysisSedentary behaviorsRC1200Prospective associations0302 clinical medicineunderweightnälänhätäBiology (General)skin and connective tissue diseasesChildrenComputingMilieux_MISCELLANEOUSBody mass indexHuman Nutrition & Healtheducation.field_of_studyHumane Voeding & GezondheidylipainoGeneral Medicinekansainvälinen vertailu3. Good healthWorld healthMedicineA100 Pre-clinical MedicinePopulation distributionmedicine.medical_specialtyQH301-705.5ScienceSocio-culturaleNursing.Social sciencesGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesThinnessSDG 3 - Good Health and Well-beingBMI; epidemiology; global health; none; obesity; underweightNoneHumansObesidade/ObesitySDG 2 - Zero HungereducationVLAGUS adultsOmvårdnadbody mass index; malnutrition; obesity underweightnutritional and metabolic diseasesmedicine.diseaseterveellisyysObesityFaculdade de Ciências SociaisBMI; epidemiology; global health; none; obesity; underweight; Body Mass Index; Humans; Obesity; Prevalence; Risk Factors; ThinnessGeneral BiochemistryWIASlihavuusunderweight ; obesity ; BMIBody mass indexRADemographyN.A.double burdenobesitySettore MED/09 - Medicina Internaalueelliset erotNutrition and DiseaseAnimal Nutrition[SDV]Life Sciences [q-bio]Medizin030204 cardiovascular system & hematology0601 Biochemistry and Cell BiologyChange distribution of body mass indexRisk FactorsRA0421Voeding en ZiekteEpidemiologyPrevalenceMedicine and Health SciencesGlobal healthÍndice de massa corporal/Body Mass Index030212 general & internal medicineUnderweightpainoindeksi2. Zero hungerGeneral NeuroscienceQRaliravitsemuselintarvikkeethealthPublic Health Global Health Social Medicine and EpidemiologyDiervoeding3142 Public health care science environmental and occupational health//purl.org/pe-repo/ocde/ford#3.01.03 [https]/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingChinese adultsepidemiologypooled analysisUnderweightmedicine.symptomDiet qualityB120 PhysiologyResearch Articletrends//purl.org/pe-repo/ocde/ford#1.06.03 [https]prevalencePopulationMothersGenetics and Molecular Biologybody mass indexmalnutrition3121 Internal medicineBMImedicineLife Scienceddc:6103125 Otorhinolaryngology ophthalmologyObesitykehonkoostumusNutritionAustralian adultsGeneral Immunology and Microbiology//purl.org/pe-repo/ocde/ford#3.01.04 [https]Ciências sociaisFolkhälsovetenskap global hälsa socialmedicin och epidemiologiMalnutritionEpidemiology and Global Healthsense organsEstilos de Vida e Impacto na Saúde
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Rising rural body-mass index is the main driver of the global obesity epidemic in adults

2019

Body-mass index (BMI) has increased steadily in most countries in parallel with a rise in the proportion of the population who live in cities(.)(1,2) This has led to a widely reported view that urbanization is one of the most important drivers of the global rise in obesity(3-6). Here we use 2,009 population-based studies, with measurements of height and weight in more than 112 million adults, to report national, regional and global trends in mean BMI segregated by place of residence (a rural or urban area) from 1985 to 2017. We show that, contrary to the dominant paradigm, more than 55% of the global rise in mean BMI from 1985 to 2017-and more than 80% in some low- and middle-income regions…

MaleRural PopulationobesityObesity body mass indexSettore MED/09 - Medicina InternaLetterUrban PopulationEpidemiology[SDV]Life Sciences [q-bio]humanosbody-mass indexadolescenteGeographic MappingSex Factorpaíses desarrolladosRural Health//purl.org/pe-repo/ocde/ford#3.03.09 [https]systematic analysisBody Mass Indexpaíses en desarrollo80 and overrisk factorsAge Factorphysical-activitymediana edadmapeo geográficoAged 80 and overanciano//purl.org/pe-repo/ocde/ford#3.02.18 [https]dietaAge FactorshealthadultoMiddle AgedMultidisciplinary Sciencesadulto joven[SDV] Life Sciences [q-bio]estado nutricionalnutritionScience & Technology - Other TopicsNUTRITIONFemaleHEALTHpooled analysisDiet Healthyworldwide trendsHumanDeveloped CountrieAdultAdolescent//purl.org/pe-repo/ocde/ford#3.03.04 [https]FOOD SYSTEMSocio-culturaleNutritional StatusURBANAdolescent; Adult; Age Factors; Aged; Aged 80 and over; Developed Countries; Developing Countries; Diet Healthy; Female; Geographic Mapping; Humans; Male; Middle Aged; Obesity; Rural Health; Rural Population; Sex Factors; Urban Health; Urban Population; Young Adult; Body Mass Index; Nutritional StatusPOOLED ANALYSISDeveloping CountrieYoung AdultSex FactorsMIDDLE-INCOME COUNTRIESSYSTEMATIC ANALYSISHumansUrban rural Obesity Body-Mass-IndexObesityobesidadDeveloping CountriesAgedMiddle-income countries; obesity; physical-activity; systematic analysis; worldwide trends; pooled analysis; food system; urban; health; nutrition; weightHealthyScience & TechnologyMiddle-income countriesDeveloped Countriesíndice de masa corporalUrban HealthweightDietPHYSICAL-ACTIVITYWORLDWIDE TRENDSRisk factors[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieWEIGHTfood systemurban
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Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

2013

Author version made available in accordance with the publisher's policy.

Candidate geneRefractive errorBone Morphogenetic Protein 2Genome-wide association studyVARIANTSGenomeGenome-wide association studies0302 clinical medicineRisk FactorsMyopiaGRIA4Genetics0303 health sciencesKCNQ Potassium ChannelsDisease geneticsEYE GROWTHASSOCIATIONRETINAL-PIGMENT EPITHELIUMRefractive ErrorsGenetic load3. Good healthADAPTED MOUSE RETINAMeta-analysisACIDPOTASSIUM CHANNELEXPRESSIONSingle-nucleotide polymorphismBiologyWhite PeopleArticle03 medical and health sciencesAsian PeoplemedicineGeneticsHumansGenetic Predisposition to DiseaseReceptors AMPAgene; myopia; refractive030304 developmental biologyHomeodomain Proteinsta1184ta3121medicine.diseaseGENEAlcohol OxidoreductasesSERINE-PROTEASEbiology.protein030221 ophthalmology & optometrySusceptibility locusTrans-ActivatorsEye disorderLamininSerine ProteasesGWAS; meta-analyses; refractive error; myopiaGenome-Wide Association StudyNature Genetics
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Author response: Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

2020

education.field_of_studybusiness.industryPopulationDistribution (economics)medicine.diseaseObesityGeographymedicineUnderweightmedicine.symptomeducationbusinessBody mass indexDemography
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Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study.

2019

Key Points Question Is birth weight associated with type 2 diabetes and glycemic traits? Findings This mendelian randomization study found that a 1-SD decrease in birth weight due to the genetic risk score was associated with a higher risk of type 2 diabetes among European and East Asian populations. In addition, a 1-SD decrease in birth weight was associated with a 0.189-SD increase in fasting glucose concentration, but not with fasting insulin, 2-hour glucose, or hemoglobin A1c level. Meaning A genetic predisposition to lower birth weight was associated with an increased risk of type 2 diabetes and increased fasting glucose, suggesting potential mechanisms through which perturbation of th…

Blood GlucoseMaleType 2 diabetes0302 clinical medicineOdds RatioBirth WeightInsulin030212 general & internal medicineOriginal Investigation0303 health sciencesAsia EasternMendelian Randomization AnalysisGeneral MedicineMiddle Aged16. Peace & justice3. Good healthOnline OnlyDiabetes and EndocrinologyFemaletype 2 diabetesAdultmedicine.medical_specialtyDiabetes riskAdolescentBirth weightPolymorphism Single NucleotideWhite People03 medical and health sciencesYoung AdultSDG 3 - Good Health and Well-beingAsian PeopleDiabetes mellitusInternal medicineMendelian randomizationmedicineHumans030304 developmental biologyGlycemicAgedGlycated Hemoglobinbusiness.industryResearchInfant Newbornbirth weightGenetic VariationOdds ratioMendelian Randomization Analysismedicine.diseaseDiabetes Mellitus Type 2mendelian randomization studybusinessJAMA network open
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Height and body-mass index trajectories of school-aged children and adolescents from 1985 to 2019 in 200 countries and territories: a pooled analysis…

2020

BACKGROUND: Comparable global data on health and nutrition of school-aged children and adolescents are scarce. We aimed to estimate age trajectories and time trends in mean height and mean body-mass index (BMI), which measures weight gain beyond what is expected from height gain, for school-aged children and adolescents.

Malebody-mass indexADULTHOODAdolescentspituuskasvuPediatricsBody Mass Index0302 clinical medicineChild DevelopmentnuoretPublic health surveillanceMedicineHealth Status Indicators10. No inequalityChild11 Medical and Health SciencesBody mass indexComputingMilieux_MISCELLANEOUSeducation.field_of_studyVDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin sosialmedisin: 801General MedicineBody mass indexeskansainvälinen vertailu3. Good healthGeographyHealth030220 oncology & carcinogenesisChild PreschoolMedical and Health sciences//purl.org/becyt/ford/3 [https]medicine.medical_specialtySchool-aged adolescentsSocio-culturalelapset (ikäryhmät)Nursing.territoriesravinto//purl.org/becyt/ford/3.3 [https]03 medical and health sciencesSchool ChildrenSDG 3 - Good Health and Well-beingSYSTEMATIC ANALYSISHumansschool-aged children and adolescentsMontenegroeducationScience & TechnologyOmvårdnadHealth sciences Medical and Health sciencesCiências médicas e da saúdeBayes TheoremAnthropometryAdolescent Developmentmedicine.diseaseTRENDSHeight and Body-mass IndexFaculdade de Ciências SociaisUNDERNUTRITIONHeight index trajectoriesHeight body mass index children epidemiologybody-mass index; school-aged children and adolescents; risk factors growthStatureBody mass indexDemographySettore MED/09 - Medicina InternaInternationality[SDV]Life Sciences [q-bio]030204 cardiovascular system & hematologyBody-mass index trajectoriesEpidemiologyMedicine and Health Sciencesrisk factorscountriesEPIDEMIOLOGYheight ; body-mass index ; children ; adolescents ; BMI030212 general & internal medicinepainoindeksiChild development2. Zero hungerMedicine(all)School age childobestity children cardiovascularPopulation Health1. No povertyPediatrikPublic Health Global Health Social Medicine and Epidemiology3142 Public health care science environmental and occupational healthPeer reviewPooled analysis/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingNUTRITIONFemalemedicine.symptompooled analysis/dk/atira/pure/subjectarea/asjc/2700Life Sciences & Biomedicineterveysheight BMI nutrition health children adolescentsAdolescentgrowthPopulationbody-massPopulation basedBody-mass indexBMIYoung AdultMedicine General & InternalchildrenMeta-Analysis as TopicGeneral & Internal Medicineparasitic diseasesWeight gainSchool-aged childrensAge trajectoriesbusiness.industryHeightWeightBody HeightFolkhälsovetenskap global hälsa socialmedicin och epidemiologiMalnutritionONSETCiências da Saúde Ciências médicas e da saúdeSchool-aged childrenVDP::Medical disciplines: 700::Health sciences: 800::Community medicine Social medicine: 801businessWeight gainterveysriskitEstilos de Vida e Impacto na Saúde
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Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

2013

Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse …

AdultMaleRefractive errorAdolescentGene ExpressionLocus (genetics)Genome-wide association studyBiologyOcular Axial LengthPolymorphism Single NucleotideWhite PeopleArticle03 medical and health sciences0302 clinical medicineAsian PeopleSDG 3 - Good Health and Well-beingmedicineGeneticsHumansGWASGenetic Predisposition to DiseaseGenetics(clinical)RSPO1Eye ProteinsGeneGenetics (clinical)030304 developmental biologyGenetic associationAgedGenetics0303 health sciencesta1184HeritabilityMiddle Agedta3121medicine.diseaseRefractive ErrorsAxial Length EyeGenetic Loci030221 ophthalmology & optometryEye disorderFemaleGenome-Wide Association StudySignal Transduction
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Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

2016

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG…

0301 basic medicineRefractive errorgenetic structuresGeneral Physics and AstronomyGenome-wide association studyVARIANTSrefractive error ; geneEYEBioinformaticsINCIDENT MYOPIAGenome-wide association studiesSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]0302 clinical medicinePolymorphism (computer science)10. No inequalityPOPULATIONeducation.field_of_studyMultidisciplinaryQACTIVATED PROTEIN-KINASEta3142single-nucleotide polymorphismRETINAL-PIGMENT EPITHELIUMOUTDOOR ACTIVITY3142 Public health care science environmental and occupational health3. Good healthRefractive errorsMeta-analysislociEducational StatusSciencePopulation610 Medicine & healthEnvironmentBiologyta3111Polymorphism Single NucleotideArticleWhite PeopleGeneral Biochemistry Genetics and Molecular BiologyEducation03 medical and health sciencesAsian PeopleSDG 3 - Good Health and Well-beingGenetic variationmedicineHumansSNPGenetic Predisposition to Diseasemyopia3125 Otorhinolaryngology ophthalmologyGenetic variationeducationRECEPTORGene Expression Profilingta1184General ChemistryHeritabilitymedicine.diseaseeye diseasesta3125TIME OUTDOORS030104 developmental biologyGenetic LociEvolutionary biologyRISK-FACTORS030221 ophthalmology & optometryREsense organs3111 BiomedicineGenome-Wide Association StudyNature Communications
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Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive err…

2020

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects …

genetic structureslikinäköisyyssense organsgeneettiset tekijäteye diseases
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Worldwide trends in body-mass index, underweight, overweight, and obesity from 1975 to 2016: a pooled analysis of 2416 population-based measurement s…

2017

© 2017 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licenseBackground Underweight, overweight, and obesity in childhood and adolescence are associated with adverse health consequences throughout the life-course. Our aim was to estimate worldwide trends in mean body-mass index (BMI) and a comprehensive set of BMI categories that cover underweight to obesity in children and adolescents, and to compare trends with those of adults. Methods We pooled 2416 population-based studies with measurements of height and weight on 128·9 million participants aged 5 years and older, including 31·5 million aged 5–19 years. We used a Bayesian hierarchical model …

MaleobesityPediatric ObesitySettore MED/09 - Medicina Internaage distributionBayes theoremNiue[SDV]Life Sciences [q-bio]global healthpreschool childBody Mass IndexunderweightPrevalencestatistics and numerical dataChildComputingMilieux_MISCELLANEOUSMedicine (all)adultAge FactorsAmerican Samoafemalepriority journalChild Preschoolbody heightyoung adultCook IslandsNauruchildhood obesityAdolescentPalausex differenceEastern Europeadolescent obesityArticlePolynesiaSouth and Central Americabody weightFederated States of MicronesiaSex FactorsThinnessgeographic distributionHumanscontrolled studyhumanCaribbeanOverweightNorth Africamajor clinical studybody massUnited States//purl.org/pe-repo/ocde/ford#3.02.00 [https]agesex factortrend study
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Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consorti…

2018

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with i…

MaleAdolescentRefractive ErrorsPolymorphism Single NucleotideArticleWhite PeopleAsian PeopleMyopiaHumansFemaleGene-Environment InteractionGenetic Predisposition to DiseaseLongitudinal StudiesAge of OnsetChildGenome-Wide Association Study
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Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.

2019

Purpose: To evaluate the roles of known myopia-associated genetic variants for development of myopic macular degeneration (MMD) in individuals with high myopia (HM), using case-control studies from the Consortium of Refractive Error and Myopia (CREAM). Methods: A candidate gene approach tested 50 myopia-associated loci for association with HM and MMD, using meta-analyses of case-control studies comprising subjects of European and Asian ancestry aged 30 to 80 years from 10 studies. Fifty loci with the strongest associations with myopia were chosen from a previous published GWAS study. Highly myopic (spherical equivalent [SE] ≤ -5.0 diopters [D]) cases with MMD (N = 348), and two sets of cont…

Refractive errorCandidate genegenetic structuresEmmetropiaGenome-wide association studySensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Macular DegenerationMathematical and Statistical TechniquesMedicine and Health SciencesMyopiaGeriatric OphthalmologyDioptreVisual ImpairmentsAged 80 and overMultidisciplinaryQRetinal DegenerationStatisticsRGenomicsMetaanalysisPhenotypeResearch DesignPhysical SciencesMedicineRetinal DisordersFemaleAnatomyResearch Articlemedicine.medical_specialtyScienceOcular AnatomySingle-nucleotide polymorphismResearch and Analysis MethodsRetinaOcular SystemOphthalmologyGeneticsGenome-Wide Association StudiesmedicineHumansStatistical Methodsbusiness.industryGene Expression ProfilingCase-control studyBiology and Life SciencesComputational BiologyGenetic VariationCorrectionHuman GeneticsMacular degenerationGenome Analysismedicine.diseaseeye diseasesOphthalmologyGenetic LociGeriatricsMacular DisordersCase-Control StudiesEyessense organsbusinessHeadMathematicsPloS one
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Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

2013

Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye…

geenimeta-analyysilikinäköisyysmyopiagene
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Repositioning of the global epicentre of non-optimal cholesterol

2020

Publisher's version (útgefin grein)

MaleMyocardial Ischemia/bloodBLOOD-PRESSUREtriglicéridos0302 clinical medicineCardiovascular diseases ; Risk factorsHDL cholesterol80 and overCARDIOVASCULAR RISK-FACTORSPublic health surveillance//purl.org/pe-repo/ocde/ford#3.02.04 [https]BlóðrásarsjúkdómarSocioeconomicsmediana edadComputingMilieux_MISCELLANEOUSPOPULATIONHypercholesterolemia/bloodAged 80 and overCholesterol HDL/bloodancianoeducation.field_of_studyKólesterólriskitekijätadulto3. Good healthadulto jovenTriglycerides/bloodCardiovascular diseasesGeographyCholesterolManchester Institute for Collaborative Research on AgeingCholesterol LDL/bloodDENSITY-LIPOPROTEIN CHOLESTEROLEndokrinologi och diabetesNCD Risk Factor Collaboration (NCD-RisC)Science & Technology - Other Topics//purl.org/becyt/ford/3 [https]Westernteorema de Bayesmedicine.medical_specialtyResearchInstitutes_Networks_Beacons/MICRAHDLMedicinaHypercholesterolemiahipercolesterolemiaNursingHEART-DISEASEEndocrinology and DiabetesHigh blood cholesterol.HDL-kolesteroliArticleLDLravintoHealth risk assessment03 medical and health sciences//purl.org/becyt/ford/3.3 [https]SDG 3 - Good Health and Well-beingBlood cholesterolHumanseducationSERUM-CHOLESTEROLVLAGAgedScience & TechnologyCholesterolPublic healthOmvårdnadHuman healthVDP::Medisinske Fag: 700::Basale medisinske odontologiske og veterinærmedisinske fag: 710Bayes TheoremATHEROSCLEROSIS SOCIETYRisk factorschemistryLipid-lowering medicationsFaculdade de Ciências SociaisEast and southeast Asiaalueelliset erotInternationalityNutrition and Disease[SDV]Life Sciences [q-bio]kolesterolihumanosMyocardial IschemiaMedizinadolescenteNon-HDL cholesterolBlood lipids030204 cardiovascular system & hematologyisquemia miocárdicachemistry.chemical_compoundCholesterol epidemiologyMEDICATION USEVoeding en ZiekteMedicine and Health SciencesAdolescent; Adult; Aged; Aged 80 and over; Bayes Theorem; Cholesterol HDL; Cholesterol LDL; Female; Humans; Hypercholesterolemia; Male; Middle Aged; Myocardial Ischemia; Stroke; Triglycerides; Young Adult; Internationality030212 general & internal medicine2. Zero hungerMultidisciplinaryMortality rateRepositioningStroke/blood1. No povertyPublic Health Global Health Social Medicine and EpidemiologycolesterolMiddle AgedVDP::Medical disciplines: 700::Basic medical dental and veterinary science disciplines: 7103142 Public health care science environmental and occupational healthPeer reviewStrokeMultidisciplinary SciencesTrend analysis/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalelipids (amino acids peptides and proteins)LIPIDSAdultAdolescentGeneral Science & TechnologyPopulationepicentre20-YEAR TRENDSYoung AdultmedicineLife Scienceddc:610accidente cerebrovascularDisease burdenTriglyceridesNutritionHigh density lipoproteinsnon-optimal cholesterolCholesterol HDLinternacionalidadCholesterol LDLTreatmentFolkhälsovetenskap global hälsa socialmedicin och epidemiologi
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A century of trends in adult human height

2016

Article

estatura corporalEpidemiologyComputingMilieux_LEGALASPECTSOFCOMPUTINGmedical research;pituuskasvuGlobal Healthmedical research0302 clinical medicineadultsPublic health surveillanceBiology (General)ComputingMilieux_MISCELLANEOUSheight ; global ; trendsPOPULATIONHuman Nutrition & Healthbiological sciences;education.field_of_studyEVOLUÇÃO HUMANAbiological sciencesHumane Voeding & GezondheidGeneral MedicineadultoHälsovetenskaperBiological sciencesnutritionOF-THE-LITERATUREMedicineGROWTHHEALTHPublic HealthHumanQH301-705.5ScienceSECULAR CHANGESSocio-culturaleGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesEpidemiology; Public HealthMedical researchNoneHealth SciencesHumansHuman heighteducationVLAGNeuroscience (all)Biochemistry Genetics and Molecular Biology (all)Adult human heightCHILD UNDERNUTRITION030104 developmental biologyBody mass index030217 neurology & neurosurgeryheightDemography0301 basic medicineSettore MED/09 - Medicina InternaNutrition and DiseaseImmunology and Microbiology (all)[SDV]Life Sciences [q-bio]humanosbiological sciences; epidemiology; global health; medical research; none; nutritionVoeding en ZiekteStature -- History -- 20th centuryMedicine and Health SciencesBiological sciencesaikuisetGeneral NeuroscienceQRPublic Health Global Health Social Medicine and EpidemiologyBody sizenone;biological sciences; epidemiology; global health; medical research; none; nutrition; Adult; Global Health; Humans; Body Height; Neuroscience (all); Biochemistry Genetics and Molecular Biology (all); Immunology and Microbiology (all)epidemiology;Adult height//purl.org/pe-repo/ocde/ford#3.01.03 [https]Research Articletrendsglobal health;AdultSTATURESouth asia//purl.org/pe-repo/ocde/ford#1.06.03 [https]Stature TallPopulationGlobal healthJournal ArticleLife ScienceGeneral Immunology and Microbiologybiological science//purl.org/pe-repo/ocde/ford#3.01.04 [https]Quarter (United States coin)Body HeighttrenditBODY-MASS INDEXFolkhälsovetenskap global hälsa socialmedicin och epidemiologikorkeusEpidemiology and Global HealthCancer incidenceCANCER INCIDENCEWEIGHT
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Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM conso…

2015

To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for …

MaleRefractive errorBLUE MOUNTAINS EYECORNEAL ASTIGMATISMSpherical equivalentGenome-wide association studyastigmatism; gene; SNPDISEASECohort Studies0302 clinical medicineStatisticsGenetics(clinical)Neural Cell Adhesion MoleculesPOPULATIONGenetics (clinical)Original InvestigationGenetics0303 health scienceseducation.field_of_studyAge FactorsHigh Mobility Group ProteinsMiddle Aged3142 Public health care science environmental and occupational health3. Good healthFemaleOPEN-ANGLE GLAUCOMAAdultGenetic MarkersEXPERIMENTALLY-INDUCED MYOPIAKeratoconusSUSCEPTIBILITY LOCICell Adhesion Molecules NeuronaleducationPopulationNerve Tissue ProteinsAstigmatismBiologyWhite People03 medical and health sciencesAGEAsian PeopleMAJOR LOCUSmedicineGeneticsHumans3125 Otorhinolaryngology ophthalmologyeducation030304 developmental biologyGenetic associationCalcium-Binding ProteinsAstigmatismHeritabilitymedicine.diseaseNONCODING RNAS030221 ophthalmology & optometryGenome-Wide Association Study
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Trends in adult body-mass index in 200 countries from 1975 to 2014: a pooled analysis of 1698 population-based measurement studies with 19.2 million …

2016

Copyright © NCD Risk Factor Collaboration. Open Access article distributed under the terms of CC BY.

MaleObesidadCHILDRENSaludReviewpaíses desarrolladosGlobal HealthBody Mass IndexBody mass index population study0302 clinical medicineModelsFactores de riesgo cardiovascularMedicinebody mass index ; underweight ; overweight ; obesityYoung adultHuman Nutrition & Healtheducation.field_of_studyHumane Voeding & GezondheidGeneral MedicineASSOCIATION11 Medical And Health Sciencesadultopredicciónadulto jovenCARDIOVASCULAR-DISEASEthinness/epidemiologyNONCOMMUNICABLE DISEASESNCD Risk Factor Collaboration (NCD-RisC)Enfermedades cardiovascularesDeveloped countryteorema de BayesMedical sciences03 medical and health sciencesSDG 3 - Good Health and Well-beingThinnessHumanseducationDeveloping CountriesobesidadVLAGScience & TechnologyModels StatisticalCAUSE-SPECIFIC MORTALITYBayes Theoremmedicine.diseaseQPObesityadult body-massIndice de masa corporal (IMC)RISK-FACTORSAdolescent; Adult; Bayes Theorem; Body Mass Index; Developed Countries; Developing Countries; Female; Forecasting; Global Health; Humans; Male; Models Statistical; Obesity/epidemiology; Prevalence; Thinness/epidemiology; Young AdultRABody mass indexDemographyMeta-AnalysisGerontologySettore MED/09 - Medicina InternaNutrition and DiseasehumanosadolescenteOverweightpaíses en desarrolloVoeding en ZiekteMedicine and Health SciencesGlobal healthPrevalence030212 general & internal medicineNon-U.S. Gov'tMedicine (all)Research Support Non-U.S. Gov'tprevalenciaPublic Health Global Health Social Medicine and EpidemiologyStatisticalAdolescent; Adult; Bayes Theorem; Developed Countries; Developing Countries; Female; Forecasting; Humans; Male; Models Statistical; Obesity; Prevalence; Thinness; Young Adult; Body Mass Index; Global Health; Medicine (all)/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleUnderweightmedicine.symptompooled analysisLife Sciences & Biomedicineobesity/*epidemiologyAdultAdolescentPopulation030209 endocrinology & metabolismResearch SupportYoung AdultMedicine General & InternalEPIDEMICGeneral & Internal MedicineJournal ArticleLife Scienceddc:610ObesityObesidad morbidaOBESITY PREVENTIONOVERWEIGHTbusiness.industryDeveloped Countriesíndice de masa corporalCOHORTS//purl.org/pe-repo/ocde/ford#3.02.00 [https]Folkhälsovetenskap global hälsa socialmedicin och epidemiologiCiencias socio biomédicasbusinessdelgadezForecasting
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Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

2023

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopi…

genetic predisposition to diseaseperinnölliset tauditympäristötekijättaittovirheetperinnöllisyyslääketiederiskitekijätquantitative traitperiytyvyysgenome-wide association studiesquantitative trait lociperimäsilmätauditmicroarraysperinnöllisyys
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Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

2015

Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, …

Aginggenetic structuresEpidemiologyOptic diskGlaucomaGenome-wide association studyNeurodegenerativeEyeOptic neuropathyOptic Nerve DiseasesNERVEGWASGenetics (clinical)GeneticsNEIGHBORHOOD ConsortiumATOH7Asiansmedicine.anatomical_structurecup areaOptic nervePublic Health and Health ServicesOPEN-ANGLE GLAUCOMATRAITSOptic discAsian Continental Ancestry Groupmedicine.medical_specialtyOpen angle glaucomaEuropean Continental Ancestry GroupOptic DiskQuantitative Trait LociBiologyOCULAR-TISSUESRetinal ganglionArticleWhite PeopleAsian PeopleOphthalmologymedicineGeneticsHumansdisc areaEye Disease and Disorders of VisionWhitesHuman GenomeNeurosciencesGlaucomaGENOTYPESmedicine.diseaseGENEeye diseasesSIZEglaucomasense organsGenome-Wide Association Study
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Effects of diabetes definition on global surveillance of diabetes prevalence and diagnosis: a pooled analysis of 96 population-based studies with 331…

2015

Diabetes has been defined on the basis of different biomarkers, including fasting plasma glucose (FPG), 2-h plasma glucose in an oral glucose tolerance test (2hOGTT), and HbA1c. We assessed the effect of different diagnostic definitions on both the population prevalence of diabetes and the classification of previously undiagnosed individuals as having diabetes versus not having diabetes in a pooled analysis of data from population-based health examination surveys in different regions.

Maleendocrine system diseasesEndocrinology Diabetes and Metabolismmedicine.medical_treatmentGlobal Health0302 clinical medicineEndocrinologyeducation.field_of_studyDiabetis//purl.org/pe-repo/ocde/ford#3.02.18 [https]Diabetes Mellitus/blood/diagnosis/epidemiologySciences bio-médicales et agricolesadultosensibilidad y especificidadhealth survey3. Good healthpriority journalCARDIOVASCULAR-DISEASEdiabetes mellitusmedicine.medical_specialtyglucosa sanguíneaSurvey samplingoral glucose tolerance test.Medical sciencesSensitivity and SpecificityArticleEndocrinology Diabetes and Metabolism; Internal Medicine; EndocrinologyEffects of diabetesHemoglobin A Glycosylated/metabolism03 medical and health sciencesfalse positive resultSDG 3 - Good Health and Well-beingDiabetes prevalenceDiabetes MellitusSYSTEMATIC ANALYSISHumanshumandiagnostic test accuracy studygross national productOLDER-ADULTSeducationprueba de tolerancia a la glucosaglycosylated hemoglobinHEMOGLOBIN A(1C) MEASUREMENTVLAGGlycated HemoglobinHemoglobin A GlycosylatedScience & TechnologyBlood Glucose/metabolismnutritional and metabolic diseasesGlucose Tolerance Testeconomic aspectmedicine.diseaseglucose blood levelGlucoseEndocrinologyagechemistryFaculdade de Ciências SociaisGlucosaGlobal surveillance of diabetesTOLERANCE TESTWORLDWIDE STANDARDIZATIONBiomarkersBiomedical sciencesBlood GlucoseSettore MED/09 - Medicina InternaNutrition and DiseasehumanosBiomarkers/metabolismInternal Medicine; Endocrinology Diabetes and Metabolism; Endocrinologygeographychemistry.chemical_compoundVoeding en ZiekteDiagnosisPrevalenceMedicine and Health Sciencesvigilancia centinela030212 general & internal medicinehemoglobin A1cUS POPULATIONDiabetes diagnosisGlucose tolerance testINSULIN-RESISTANCEmedicine.diagnostic_testResearch Support Non-U.S. Gov'tQDiabetesprevalenciaSCREENING-TESThealthArticlesGlucose bloodDiabetes and MetabolismincomePopulation-based health examination surveysFemaleLife Sciences & BiomedicineAdultPopulationpopulation groupCONSENSUS STATEMENT030209 endocrinology & metabolismGLYCATED HEMOGLOBINhigh income regionEndocrinology & MetabolismInsulin resistanceResearch Support N.I.H. ExtramuralbloodInternal medicineDiabetes mellitusparasitic diseasesJournal ArticlemedicineInternal MedicineLife Scienceddc:613business.industryInsulinbody massBiological markerFASTING PLASMA-GLUCOSECiencias socio biomédicasGlycated hemoglobinbusinessmetabolismSentinel Surveillance
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A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a …

2020

AbstractWe conducted a large multi-ethnic meta-analysis of genome-wide association studies for primary open-angle glaucoma (POAG) on a total of 34,179 cases vs 349,321 controls, and identified 127 independent risk loci, almost doubling the number of known loci for POAG. The majority of loci have broadly consistent effect across European, Asian and African ancestries. We identify a link, both genome-wide and at specific loci, between POAG and Alzheimer’s disease. Gene expression data and bioinformatic functional analyses provide further support for the functional relevance of the POAG risk genes. Several drug compounds target these risk genes and may be potential candidates for developing no…

Genetics0303 health sciencesgenetic structuresOpen angle glaucomaGlaucomaGenome-wide association studyDiseaseBiologymedicine.diseaseeye diseases3. Good health03 medical and health sciences0302 clinical medicineMeta-analysismedicinesense organsGene030217 neurology & neurosurgery030304 developmental biologyGenetic association
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Genome-wide association studies identify four ER negative-specific breast cancer risk loci

2013

Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environm…

Oncologygenetic associationbody-mass indexEstrogen receptorGenome-wide association studycancer riskBioinformaticssusceptibilitychromosome 1q0302 clinical medicineRisk Factorssingle nucleotide polymorphismGenotypeestrogenCooperative Behaviorcomparative studyOligonucleotide Array Sequence Analysis0303 health scienceschromosome 16q3. Good healthReceptors Estrogenpriority journal030220 oncology & carcinogenesisFemalecancer invasionsignal transductionbreast cancer; cancer invasion; cancer risk; chromosome 1; chromosome 16q; chromosome 1q; chromosome 2p; comparative study; follow up; gene locus; genetic association; genetic susceptibility; human; nucleotide sequence; priority journal; signal transduction; single nucleotide polymorphismmedicine.medical_specialtyGenotypegene locusBreast NeoplasmsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesBreast cancerbreast cancerMeta-Analysis as TopicSDG 3 - Good Health and Well-beingInternal medicineexpressionGeneticsmedicineGenetic predispositionHumansfollow upGenetic Predisposition to Diseasehumanchromosome 1gene030304 developmental biologyCase-control studyCancernucleotide sequencemedicine.diseasechromosome 2pGenetic LociCase-Control Studiescommon variantGenome-Wide Association Studygenetic susceptibilityNature Genetics
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Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia

2021

Importance: Uncertainty currently exists about whether the same genetic variants are associated with susceptibility to low myopia (LM) and high myopia (HM) and to myopia and hyperopia. Addressing this question is fundamental to understanding the genetics of refractive error and has clinical relevance for genotype-based prediction of children at risk for HM and for identification of new therapeutic targets. Objective: To assess whether a common set of genetic variants are associated with susceptibility to HM, LM, and hyperopia. Design, Setting, and Participants: This genetic association study assessed unrelated UK Biobank participants 40 to 69 years of age of European and Asian ancestry. Par…

medicine.medical_specialtyRefractive errorgenetic structuresEmmetropiaGenome-wide association study01 natural sciences03 medical and health sciences0302 clinical medicineInternal medicinemedicineGenetic predispositionMyopiaHumansGenetic Predisposition to Disease0101 mathematicsAlleleChildGenetic associationOriginal Investigationbusiness.industry010102 general mathematicsOdds ratioHeritabilitymedicine.diseaseRefractive Errorseye diseases3. Good healthOphthalmologyHyperopia030221 ophthalmology & optometrybusinessGenome-Wide Association StudyJAMA Ophthalmology
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