0000000000736497

AUTHOR

B.g. Nordestgaard

showing 3 related works from this author

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

2014

Item does not contain fulltext Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a mono…

Multifactorial InheritanceSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismVascular damage Radboud Institute for Health Sciences [Radboudumc 16]Genome-wide association studyDisease030204 cardiovascular system & hematologyISCHEMIC-HEART-DISEASEBioinformaticshypertriglyceridaemia0302 clinical medicineEndocrinologyGENERAL-POPULATIONHypertriglyceridemiatreatmentmedicine.diagnostic_testREMNANT CHOLESTEROLCombined Modality Therapy3. Good healthLIPASE DEFICIENCYdiagnosiPLASMA TRIGLYCERIDESDENSITY-LIPOPROTEIN CHOLESTEROLCARDIOVASCULAR-DISEASEPractice Guidelines as TopicBiomarker (medicine)Multifactorial Inheritancemedicine.medical_specialty030209 endocrinology & metabolismHealth PromotionArticle03 medical and health sciencesPharmacotherapyInternal medicineInternal MedicinemedicineAnimalsHumansHOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIAGenetic Predisposition to DiseaseAlleleGENOME-WIDE ASSOCIATIONLife Stylehypertriglyceridaemia; diagnosis; treatmentTriglyceridesGenetic testingbusiness.industryHypertriglyceridemianutritional and metabolic diseasesmedicine.diseaseEndocrinologyNONFASTING TRIGLYCERIDESbusinessBiomarkersThe lancet. Diabetesendocrinology
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Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

signaling pathwayGenotypingGenotypeSingle-nucleotide polymorphismGenome-wide association studyBreast NeoplasmsconsortiumBiologyBreast Neoplasms; Case-Control Studies; Cooperative Behavior; Female; Gene-Environment Interaction; Genetic Loci; Genome-Wide Association Study; Genotype; Humans; Meta-Analysis as Topic; Polymorphism Single Nucleotide; Risk Factors; Genetic Predisposition to Disease; GeneticsPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineBreast cancerSDG 3 - Good Health and Well-beingMeta-Analysis as TopicRisk FactorsGenotypecommon variantsexpressionGeneticsmedicineHumansGenetic Predisposition to DiseasePolymorphismCooperative BehaviorgeneGenotypinghormone-related protein030304 developmental biologyGenetic associationGenetics0303 health sciencesBreast cancer susceptibilityCancerSingle Nucleotidemedicine.diseaseconfer susceptibilitysusceptibility loci3. Good health14q24.1 rad51l1TOX3Genetic Loci030220 oncology & carcinogenesisCase-Control Studiesgenome-wide associationFemaleGene-Environment InteractionGenome-Wide Association Study
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Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

2014

Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for stud…

Genotyping TechniquesResearch Support U.S. Gov't P.H.S.CASP8 and FADD-Like Apoptosis Regulating ProteinGenome-wide association studyP.H.S.Medical and Health SciencesBreast and Ovarian Cancer Susceptibility (BOCS) StudyMedizinische FakultätGenetics(clinical)Non-U.S. Gov'tGenetics (clinical)GeneticsGenetics & HeredityvariantsCaspase 8Research Support Non-U.S. Gov'tAssociation Studies ArticlesGeneral MedicineBiological Sciencesddc:Chromosomes Human Pair 2kConFab InvestigatorsFemaleGENICA NetworkAustralian Ovarian Cancer Study GroupEuropean Continental Ancestry GroupNon-P.H.S.Single-nucleotide polymorphismBreast Neoplasms-BiologyResearch SupportPolymorphism Single NucleotideWhite PeopleN.I.H.Breast cancerResearch Support N.I.H. ExtramuralSDG 3 - Good Health and Well-beingmedicineGeneticsJournal ArticleHumansGenetic Predisposition to Diseaseddc:610geneGenotyping TechniquesGenotypingMolecular BiologyGenetic associationdiseaseExtramuralProteinsOdds ratiomedicine.diseasesusceptibility lociMinor allele frequencyCase-Control Studiesgenome-wide associationenhancersU.S. Gov'tcasp8Research Support U.S. Gov't Non-P.H.S.Genome-Wide Association Study
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