ArticleHuman molecular genetics2017
GWAS identifies population-specific new regulatory variants in FUT6 associated with plasma B12 concentrations in Indians.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 39 citations in OpenAlex.
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- Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents.Scientific reports · 2021Article
- Whole Genome Interpretation for a Family of Five.Frontiers in genetics · 2021Article
- Current State of Evidence: Influence of Nutritional and Nutrigenetic Factors on Immunity in the COVID-19 Pandemic Framework.Nutrients · 2020Review
- Genetic determinants of low vitamin B12 levels in Alzheimer's disease risk.Alzheimer's & dementia (Amsterdam, Netherlands) · 2019Article
- Elucidating the role of maternal environmental exposures on offspring health and disease using two-sample Mendelian randomization.International journal of epidemiology · 2019Article
- What makes non-cirrhotic portal hypertension a common disease in India? Analysis for environmental factors.The Indian journal of medical research · 2019Review
- Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans.Human molecular genetics · 2019Article
- An update on vitamin B12-related gene polymorphisms and B12 status.Genes & nutrition · 2018Review
- The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.Human molecular genetics · 2017Article
- Comments on "Vitamin Pharmacogenomics: New Insight into Individual Differences in Diseases and Drug Responses".Genomics, proteomics & bioinformatics · 2017Article
Corrections and comments
- Erratum issued
Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
Abstract
Vitamin B12 is an important cofactor in one-carbon metabolism whose dysregulation is associated with various clinical conditions. Indians have a high prevalence of B12 deficiency but little is known about the genetic determinants of circulating B12 concentrations in Indians. We performed a genome-wide association study in 1001 healthy participants in the Pune Maternal Nutrition Study (PMNS), replication studies in 3418 individuals from other Indian cohorts and by meta-analysis identified new variants, rs3760775 (P = 1.2 × 10-23) and rs78060698 (P = 8.3 × 10-17) in FUT6 to be associated with circulating B12 concentrations. Although in-silico analysis replicated both variants in Europeans, differences in the effect allele frequency, effect size and the linkage disequilibrium structure of credible set variants with the reported variants suggest population-specific characteristics in this region. We replicated previously reported variants rs602662, rs601338 in FUT2, rs3760776, rs708686 in FUT6, rs34324219 in TCN1 (all P < 5 × 10-8), rs1131603 in TCN2 (P = 3.4 × 10-5), rs12780845 in CUBN (P = 3.0 × 10-3) and rs2270655 in MMAA (P = 2.0 × 10-3). Circulating B12 concentrations in the PMNS and Parthenon study showed a significant decline with increasing age (P < 0.001), however, the genetic contribution to B12 concentrations remained constant. Luciferase reporter and electrophoretic-mobility shift assay for the FUT6 variant rs78060698 using HepG2 cell line demonstrated strong allele-specific promoter and enhancer activity and differential binding of HNF4α, a key regulator of expression of various fucosyltransferases. Hence, the rs78060698 variant, through regulation of fucosylation may control intestinal host-microbial interaction which could influence B12 concentrations. Our results suggest that in addition to established genetic variants, population-specific variants are important in determining plasma B12 concentrations.
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