ArticleThe Journal of steroid biochemistry and molecular biology2016
Genome-wide association study of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian diabetic heart study.
Article in The Journal of steroid biochemistry and molecular biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Global Genetic Variation in Circulating 25-Hydroxyvitamin D: A Systematic Review of GWAS Evidence Across Different Ancestral Groups.Nutrients · 2026Pooled it
- A Bidirectional Mendelian Randomization Study to evaluate the causal role of reduced blood vitamin D levels with type 2 diabetes risk in South Asians and Europeans.Nutrition journal · 2021Pooled it
- Effect of an vitamin D deficiency on depressive symptoms in child and adolescent psychiatric patients - a randomized controlled trial: study protocol.BMC psychiatry · 2018Trial
- Circulating serum 25-hydroxyvitamin D levels and bone mineral density and osteoporotic vertebral fractures: A Mendelian randomization study.Journal of translational internal medicine · 2026Article
- Type 2 Diabetes Causally Reduces Circulating Vitamin D Levels: A Multi-Ancestry Mendelian Randomization Study.Nutrients · 2026Article
- Identification of lipid quantitative trait loci linked with cardiometabolic disease in Asian Indians and Europeans: A genome-wide association study and Mendelian randomization.PLoS medicine · 2026Observational
- Interindividual Genetic Differences Drive Discordance Between Serum Calcidiol and Calcitriol Concentrations in Females.Endocrinology · 2025Article
- Excess of rare noncoding variants in several type 2 diabetes candidate genes among Asian Indian families.Communications medicine · 2025Article
- Article
- Polygenic Risk Score Assessment for Coronary Artery Disease in Asian Indians.Journal of cardiovascular translational research · 2024Article
- Assessing the prediction of type 2 diabetes risk using polygenic and clinical risk scores in South Asian study populations.Therapeutic advances in endocrinology and metabolism · 2023Article
- The Role of CYP3A in Health and Disease.Biomedicines · 2022Review
- Genetic Determinants of 25-Hydroxyvitamin D Concentrations and Their Relevance to Public Health.Nutrients · 2022Review
- Interplay of Vitamin D and CYP3A4 Polymorphisms in Endocrine Disorders and Cancer.Endocrinology and metabolism (Seoul, Korea) · 2022Review
- Ethnic differences in ApoC-III concentration and the risk of cardiovascular disease: No evidence for the cardioprotective role of rare/loss of functionAmerican heart journal plus : cardiology research and practice · 2022Article
- A putative causality of vitamin D in common diseases: A mendelian randomization study.Frontiers in nutrition · 2022Article
- Genetic Variation and Mendelian Randomization Approaches.Advances in experimental medicine and biology · 2022Article
- Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study.Endocrinology and metabolism (Seoul, Korea) · 2021Article
- Article
- APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups.Lipids in health and disease · 2021Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
Vitamin 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, [β=-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) [β=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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.