{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T16:17:09Z","timestamp":1782317829639,"version":"3.54.5"},"reference-count":47,"publisher":"Korean Endocrine Society","issue":"6","license":[{"start":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T00:00:00Z","timestamp":1638403200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Veterans Health Service Medical Center","award":["VHSMC20026"],"award-info":[{"award-number":["VHSMC20026"]}]}],"content-domain":{"domain":["e-enm.org"],"crossmark-restriction":true},"short-container-title":["Endocrinol Metab"],"published-print":{"date-parts":[[2021,12,31]]},"abstract":"<jats:p>Background: Epidemiological data have shown that vitamin D deficiency is highly prevalent in Korea. Genetic factors influencing vitamin D deficiency in humans have been studied in Europe but are less known in East Asian countries, including Korea. We aimed to investigate the genetic factors related to vitamin D levels in Korean people using a genome-wide association study (GWAS).Methods: We included 12,642 subjects from three different genetic cohorts consisting of Korean participants. The GWAS was performed on 7,590 individuals using linear or logistic regression meta- and mega-analyses. After identifying significant single nucleotide polymorphisms (SNPs), we calculated heritability and performed replication and rare variant analyses. In addition, expression quantitative trait locus (eQTL) analysis for significant SNPs was performed.Results: rs12803256, in the actin epsilon 1, pseudogene (&lt;i&gt;ACTE1P&lt;\/i&gt;) gene, was identified as a novel polymorphism associated with vitamin D deficiency. SNPs, such as rs11723621 and rs7041, in the group-specific component gene (GC) and rs11023332 in the phosphodiesterase 3B (&lt;i&gt;PDE3B&lt;\/i&gt;) gene were significantly associated with vitamin D deficiency in both meta- and mega-analyses. The SNP heritability of the vitamin D concentration was estimated to be 7.23%. eQTL analysis for rs12803256 for the genes related to vitamin D metabolism, including glutamine-dependent NAD(+) synthetase (&lt;i&gt;NADSYN1&lt;\/i&gt;) and 7-dehydrocholesterol reductase (&lt;i&gt;DHCR7&lt;\/i&gt;), showed significantly different expression according to alleles.Conclusion: The genetic factors underlying vitamin D deficiency in Korea included polymorphisms in the GC, &lt;i&gt;PDE3B&lt;\/i&gt;, &lt;i&gt;NADSYN1&lt;\/i&gt;, and &lt;i&gt;ACTE1P&lt;\/i&gt; genes. The biological mechanism of a non-coding SNP (rs12803256) for &lt;i&gt;DHCR7&lt;\/i&gt;\/&lt;i&gt;NADSYN1&lt;\/i&gt; on vitamin D concentrations is unclear, warranting further investigations.<\/jats:p>","DOI":"10.3803\/enm.2021.1241","type":"journal-article","created":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T04:13:10Z","timestamp":1638418390000},"page":"1189-1200","update-policy":"https:\/\/doi.org\/10.3803\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study"],"prefix":"10.3803","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8986-2632","authenticated-orcid":true,"given":"Ye An","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9003-0614","authenticated-orcid":true,"given":"Ji 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