0000000000294067

AUTHOR

Joline W.j. Beulens

showing 2 related works from this author

Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin

2016

Metformin is the first-line antidiabetic drug with over 100 million users worldwide, yet its mechanism of action remains unclear(1). Here the Metformin Genetics (MetGen) Consortium reports a three-stage genome-wide association study (GWAS), consisting of 13,123 participants of different ancestries. The C allele of rs8192675 in the intron of SLC2A2, which encodes the facilitated glucose transporter GLUT2, was associated with a 0.17% (P = 6.6 x 10(-14)) greater metformin-induced reduction in hemoglobin A1c (HbA1c) in 10,577 participants of European ancestry. rs8192675 was the top cis expression quantitative trait locus (cis-eQTL) for SLC2A2 in 1,226 human liver samples, suggesting a key role …

Blood Glucose0301 basic medicinemedicine.medical_specialtyendocrine system diseasesGenome-wide association studyType 2 diabetesPolymorphism Single NucleotideWhite PeopleBody Mass Index03 medical and health sciencesQuantitative Trait HeritableInternal medicineDiabetes mellitusGeneticsmedicineHumansHypoglycemic AgentsAlleleGlycemicGlucose Transporter Type 2Glycated HemoglobinbiologyGlucose transporternutritional and metabolic diseasesmedicine.diseaseMetformin3. Good healthMetformin030104 developmental biologyEndocrinologyDiabetes Mellitus Type 2biology.proteinGLUT2Genome-Wide Association Studymedicine.drug
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Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumpti…

2011

Alcohol consumption is a moderately heritable trait, but the genetic basis in humans is largely unknown, despite its clinical and societal importance. We report a genome-wide association study meta-analysis of ∼2.5 million directly genotyped or imputed SNPs with alcohol consumption (gram per day per kilogram body weight) among 12 population-based samples of European ancestry, comprising 26,316 individuals, with replication genotyping in an additional 21,185 individuals. SNP rs6943555 in autism susceptibility candidate 2 gene ( AUTS2 ) was associated with alcohol consumption at genome-wide significance ( P = 4 × 10 −8 to P = 4 × 10 −9 ). We found a genotype-specific expression of AUTS2 in 9…

Netherlands Twin Register (NTR)alcohol consumptionPopulationautismSingle-nucleotide polymorphismGenome-wide association studygenome-wide analysis; epidemiologic; transcriptional expression analysis; alcohol consumption; autismBiologyQuantitative trait locus03 medical and health sciences0302 clinical medicineSDG 3 - Good Health and Well-beingADDICTIVE BEHAVIORDEPENDENCEGenotype/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicineSNPeducationGenotyping030304 developmental biologyGenetics0303 health scienceseducation.field_of_studyMultidisciplinaryepidemiologicMENAlcohol Drinking/genetics; Alcohol Drinking/metabolism; Animals; Drosophila melanogaster/genetics; Drosophila melanogaster/metabolism; European Continental Ancestry Group/genetics; Female; Gene Expression Regulation/genetics; Genome-Wide Association Study; Genotype; Humans; Male; Mice; Nuclear Proteins/biosynthesis; Nuclear Proteins/genetics; Polymorphism Single Nucleotide; Proteins/genetics; Proteins/metabolism; Quantitative Trait HeritableBiological Sciencesmedicine.diseaseGENOTYPES3. Good healthDROSOPHILA/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingAutismtranscriptional expression analysis030217 neurology & neurosurgerygenome-wide analysisProceedings of the National Academy of Sciences of the U.S.A.
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