Sapkota, B.R.Hopkins, R.Bjonnes, A.Ralhan, S.Wander, G.S.Mehra, N.K.Singh, J.R.Blackett, P.R.Saxena, R.Sanghera, D.K.2018-07-142024-08-132018-07-142024-08-132016Sapkota, B. R., Hopkins, R., Bjonnes, A., Ralhan, S., Wander, G. S., Mehra, N. K., . . . Sanghera, D. K. (2016). Genome-wide association study of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian diabetic heart study. Journal of Steroid Biochemistry and Molecular Biology, 158, 149-156. doi: 10.1016/j.jsbmb.2015.12.014960076010.1016/j.jsbmb.2015.12.014https://kr.cup.edu.in/handle/32116/1342Vitamin D deficiency is implicated in multiple disease conditions and accumulating evidence supports that the variation in serum vitamin D (25(OH)D) levels, including deficiency, is under strong genetic control. However, the underlying genetic mechanism associated with vitamin 25(OH)D concentrations is poorly understood. We earlier reported a very high prevalence of vitamin D deficiency associated with an increased risk for type 2 diabetes and obesity in a Punjabi Sikh diabetic cohort as part of the Asian Indian diabetic heart study (AIDHS). Here we have performed the first genome-wide association study (GWAS) of serum 25(OH)D on 3538 individuals from this Punjabi Sikh population. Our discovery GWAS comprised of 1387 subjects followed by validation of 24 putative SNPs (P < 10-4) using an independent replication sample (n = 2151) from the same population by direct genotyping. A novel locus at chromosome 20p11.21 represented by rs2207173 with minor allele frequency (MAF) 0.29, [? = -0.13, p = 4.47 ? 10-9] between FOXA2 and SSTR4 was identified to be associated with 25(OH)D levels. Another suggestive association signal at rs11586313 (MAF 0.54) [? = 0.90; p = 1.36 ? 10-6] was found within the regulatory region of the IVL gene on chromosome 1q21.3. Additionally, our study replicated 3 of 5 known GWAS genes associated with 25(OH)D concentrations including GC (p = 0.007) and CYP2R1 (p = 0.019) reported in Europeans and the DAB1 (p = 0.003), reported in Hispanics. Identification of novel association signals in biologically plausible regions with 25(OH)D metabolism will provide new molecular insights on genetic drivers of vitamin D status and its implications in health disparities. ? 2015 Elsevier Ltd. All rights reserved.en25 Hydroxyvitamin DHepatocyte Nuclear Factor 3BetaHydroxycolecalciferol AsianControlled StudyGeneGene FrequencyGenetic AssociationGenetic VariabilityGenotypeHealth DisparityHispanicHumanIndianIvl GeneMajor Clinical StudyNon Insulin Dependent Diabetes MellitusPrincipal Component AnalysisPunjabi (People)Single Nucleotide PolymorphismAdultAgedBloodCase Control StudyCaucasianDiabetes Mellitus, Type 2FemaleGenetic VariationGeneticsGenoArticlehttps://www.sciencedirect.com/science/article/pii/S0960076015301588?via%3Dihub