rs222020

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).

Two-stage GWAS of 10,140 lung cancer cases and 11,012 controls in inflammation pathways using hierarchical modeling identified one novel locus at rs2741354 in EPHX2 (p=7.4×10⁻⁶), and confirmed associations with TERT (rs2736100) and HLA region variants. Hierarchical modeling incorporating prior biological knowledge identified 32 replicated variants not captured by conventional maximum likelihood analysis.

This family-based association study tested 12 SNPs in the vitamin D-binding protein (DBP) gene for association with compression strength index (CSI), a composite measure of hip fracture risk, in 1,873 Caucasian subjects from 405 nuclear families. Two SNPs showed significant associations with CSI in males: rs222029 (P=0.0019, R²=1.80%) and rs222020 (P=0.0042, R²=1.60%), with the A-A-A haplotype conferring 4.4% higher CSI than the G-G-G haplotype. Findings suggest DBP gene polymorphisms influence CSI phenotype particularly in Caucasian males.