rs927650
This is a intron variant variant in the CYP24A1 gene.
▶Research that mentions this SNP (4)
▶Association between variants in vitamin D‐binding protein gene and vitamin D deficiency among pregnant women in chinaAssociationN=815Jinju Dong et al.(2020)· Journal of Clinical Laboratory Analysis
This case-control association study of 815 Chinese pregnant women identified five SNPs in the GC (vitamin D-binding protein) gene significantly associated with serum 25-hydroxyvitamin D concentration: rs17467825, rs4588, rs2282679, rs2298850, and rs1155563. Mean 25(OH)D level was 15.67±7.98 ng/mL with 75% prevalence of deficiency. An XGBoost model incorporating these SNPs plus environmental factors achieved AUC 0.828 for predicting 25(OH)D deficiency risk. The study suggests maternal vitamin D deficiency may increase macrosomia risk (12 of 16 macrosomic infants had deficient mothers).
▶Vitamin D pathway gene polymorphisms and hepatocellular carcinoma in chronic hepatitis C-affected patients treated with new drugsAssociationN=258Jessica Cusato et al.(2018)· Cancer Chemotherapy and Pharmacology
In 258 chronic hepatitis C patients treated with direct-acting antivirals, VDR FokI rs10735810 T>C SNP was significantly associated with hepatocellular carcinoma (HCC) presence (p=0.013), with all CC genotype carriers remaining HCC-free. Multivariate logistic regression identified age (OR 25.41), ribavirin administration, and IL28B rs12979860 CC genotype as HCC risk factors, while VDR FokI CC genotype was protective.
▶No association of vitamin D metabolism-related polymorphisms and melanoma risk as well as melanoma prognosis: a case–control studyAssociationN=675Annika Schäfer et al.(2012)· Archives of Dermatological Research
This hospital-based case-control study tested eight vitamin D metabolism-related polymorphisms (rs1155563, rs7041, rs4646536, rs927650, rs2107301, rs7975232, rs757343, and rs731236) in 305 melanoma patients and 370 healthy controls. None of the eight SNPs showed significant associations with melanoma risk or melanoma prognosis (Breslow tumor thickness). All odds ratios ranged from 0.80–1.22 with 95% confidence intervals crossing 1.0 and p-values > 0.05.
▶Vitamin D pathway gene variants and prostate cancer prognosisAssociationN=1,294Sarah K. Holt et al.(2010)· The Prostate
This prospective cohort study of 1,294 Caucasian prostate cancer cases with 8-year follow-up examined vitamin D pathway gene variants (VDR, CYP27B1, CYP24A1) using 48 tagging SNPs. Variants in VDR (rs6823, rs2071358, rs3782905, rs7299460, rs11168314) and CYP24A1 (rs927650, rs2762939, rs3787557, rs4809960, rs2296241, rs2585428, rs6022999) were associated with altered risks of prostate cancer recurrence/progression and/or prostate cancer-specific mortality. A panel of VDR and CYP24A1 SNPs improved prediction of 5-year recurrence/progression (sensitivity increased from 53.7% to 75.6% at 80% specificity) beyond clinical parameters alone.
About CYP24A1
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all CYP24A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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