rs2248137

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).

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.