{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T20:15:22Z","timestamp":1784060122095,"version":"3.55.0"},"reference-count":0,"publisher":"Pakistan Medical Association","issue":"8","license":[{"start":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T00:00:00Z","timestamp":1783814400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pak Med Assoc"],"abstract":"<jats:p>Objectives: To determine the association of polymorphism rs10741657 in the CYP2R1 gene with vitamin D deficiency in apparently healthy subjects.\nMethod: The prospective, case-control study was conducted from June 2023 to January 2024 at the CREAM Lab of Army Medical College, Rawalpindi, and comprised vitamin D-deficient cases in group A and healthy controls in group B. \u00a0Genotyping of rs10741657 polymorphism in the CYP2R1 gene was performed using allele-specific polymerase chain reaction (AS-PCR). Genotypic and allelic frequencies, Hardy\u2013Weinberg equilibrium, and genetic inheritance models were analysed using SNPStats, a web-based statistical software for genetic association studies.\nResults: Of the 300 subjects with a mean age of 43.56 \u00b1 15.26 years, 150 (50%) were in group A, comprising 91 (61%) females and 59 (39%) males, with a mean age of 44.49 \u00b1 15.12 years. There were 150 (50%) controls in group B, including 83 (55%) males and 67 (45%) females, with a mean age of 42.63 \u00b1 15.40 years. The genotypic frequencies in group A were A\/A 45(30%), A\/C 101(67.34%), C\/C 4(2.66%). The corresponding values in group B were 39(26%), 110(73.34%) and 1(0.66%). The allele frequency of A was 191 (64%) in vitamin D-deficient cases and 188 (63%) in healthy controls (p = 0.8775), while the C allele frequency was 109 (36%) in cases and 112 (37%) in controls (p = 0.8401). The genotype frequencies in cases were A\/A 45 (30%), A\/C 101 (67%), and C\/C 4 (2.67%), compared to A\/A 39 (26%), A\/C 110 (73%), and C\/C 1 (0.67%) in controls, with no statistically significant difference observed between the groups (p &gt; 0.05). The inheritance genetic models suggested no association with vitamin D deficiency (p&gt;0.05); codominant model \u2013 A\/C odds ratio 0.70 (95% confidence interval: 0.45-1.23), C\/C odds ratio 4.00 (95% confidence interval: 0.45-36.96); dominant model odds ratio 0.80 (95% confidence interval: 0.49-1.35); recessive model odds ratio 4.00 (95% confidence interval: 0.45-36.96); and overdominant model odds ratio 0.70 (95% confidence interval: 0.45-1.23).\nConclusion: The A allele was found to be the most common variant of rs10741657 in both the groups. The rs10741657 polymorphism was not a risk for the susceptibility to vitamin D deficiency. No correlation of genotype with serum vitamin D levels was noted.\nKey Words: Allele-specific polymerase chain reaction, Single nucleotide polymorphism, Calcitriol, 25 Hydroxylase, Vitamin D binding protein.<\/jats:p>","DOI":"10.47391\/jpma.22692","type":"journal-article","created":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T19:59:22Z","timestamp":1784059162000},"page":"1252-1256","source":"Crossref","is-referenced-by-count":0,"title":["Association of rs10741657 polymorphism in CYP2R1 gene with apparently healthy vitamin-D deficient Pakistani subjects"],"prefix":"10.47391","volume":"76","author":[{"family":"Abdur Rauf","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Asifa Majeed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"26547","published-online":{"date-parts":[[2026,7,12]]},"container-title":["Journal of the Pakistan Medical Association"],"original-title":[],"link":[{"URL":"https:\/\/jpma.org.pk\/index.php\/public_html\/article\/download\/22692\/4957","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jpma.org.pk\/index.php\/public_html\/article\/download\/22692\/4957","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T19:59:23Z","timestamp":1784059163000},"score":1,"resource":{"primary":{"URL":"https:\/\/jpma.org.pk\/index.php\/public_html\/article\/view\/22692"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,12]]},"references-count":0,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2026,7,14]]}},"URL":"https:\/\/doi.org\/10.47391\/jpma.22692","relation":{},"ISSN":["0030-9982"],"issn-type":[{"value":"0030-9982","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7,12]]}}}