Search results for "RETINAL-PIGMENT EPITHELIUM"

showing 3 items of 3 documents

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

2018

Skin affections after sulfur mustard (SM) exposure include erythema, blister formation and severe inflammation. An antidote or specific therapy does not exist. Anti-inflammatory compounds as well as substances counteracting SM-induced cell death are under investigation. In this study, we investigated the benzylisoquinoline alkaloide berberine (BER), a metabolite in plants like berberis vulgaris, which is used as herbal pharmaceutical in Asian countries, against SM toxicity using a well-established in vitro approach. Keratinocyte (HaCaT) mono-cultures (MoC) or HaCaT/THP-1 co-cultures (CoC) were challenged with 100, 200 or 300 mM SM for 1 h. Post-exposure, both MoC and CoC were treated with 1…

0301 basic medicineAdultMaleCell typeResearchInstitutes_Networks_Beacons/MICRAIn silicotaittovirheetGenome-wide association studyRetinal Pigment EpitheliumBiologyBlindnessPolymorphism Single NucleotideSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]ArticleRetinaWhite People03 medical and health sciencesHIGH-GRADE MYOPIA ; RETINAL-PIGMENT EPITHELIUM ; SEROTONIN PATHWAY GENES ; FORM-DEPRIVATION MYOPIA ; COMMON VARIANTS ; OCULAR GROWTH ; RETINITIS-PIGMENTOSA ; GENOTYPE IMPUTATION ; MISSENSE MUTATIONS ; DOPAMINE-RECEPTORSAsian Peoplerefractive errorsRetinitis pigmentosaGeneticsmedicineMyopiaJournal ArticleHumansGenetic Predisposition to Disease610 Medicine & healthRegulation of gene expressionRetinaRetinal pigment epitheliummedicine.diseaseRefractive Errors030104 developmental biologymedicine.anatomical_structureManchester Institute for Collaborative Research on AgeingGene Expression Regulationgenetic factorsEye disorderFemalesense organsgeneettiset tekijätNeuroscienceGenome-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 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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