rs6068816

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).

This systematic review examines the role of cytochrome P450 (CYP) gene polymorphisms in the pathogenesis and development of ulcerative colitis. The authors discuss ten critical CYP isoforms (CYP1A1, CYP2D6, CYP2J2, CYP2R1, CYP3A4/3A5/3A7, CYP4F3, CYP24A1, CYP26B1, and CYP27B1) and their genetic variants associated with UC susceptibility and drug metabolism. Notable findings include CYP1A1*2A correlation with UC predisposition, CYP2D6*4 polymorphisms increasing UC risk (OR=1.56), CYP2J2 promoter polymorphism (G-50T) enrichment in UC patients, CYP24A1 variants (rs4809957, rs6068816, rs6091822, rs8124792) showing significant associations in East Asian populations, and CYP27B1 induction in UC lesions.

A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol combined with cisplatin and docetaxel in 34 advanced non-small-cell lung cancer patients. The recommended phase II dose was 60 mcg/m² every 21 days. CYP24A1 SNP rs2762939 and rs3787554 were analyzed for associations with overall survival and progression-free survival using univariate Cox regression models, though associations did not reach statistical significance (rs2762939: p=0.29 OS, p=0.70 PFS; rs3787554: p=0.13 OS, p=0.30 PFS). Functional SNPs in CYP24A1 may inform future studies for individualizing calcitriol therapy.

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.