rs1155563

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 study examined genetic variants in the vitamin D pathway using GWAS data from 3,686 women of African ancestry (1,657 cases). No significant associations were found between vitamin D pathway variants and breast cancer risk overall or by estrogen receptor status (pathway P > 0.5, SNP-level P adj > 0.2). Mendelian randomization analysis showed no association with genetically predicted 25(OH)D levels (P = 0.23). However, a nonsense variant rs41302073 in TYRP1 (pigment synthesis pathway) showed a 54% increased risk of breast cancer (OR = 1.54, 95% CI = 1.24-1.91, P adj = 0.007), warranting further investigation of non-vitamin D mechanisms.

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.

This study examined associations between common variants in GC, CYP2R1, and NADSYN1/DHCR7 genes and plasma 25-hydroxyvitamin D levels in 3,210 Chinese Hans. Six variants showed significant associations with lower vitamin D levels: GC-rs4588 (β = -0.076 per risk-allele, P = 1.3 × 10⁻²⁶), GC-rs2282679 (β = -0.072, P = 4.9 × 10⁻²⁴), GC-rs7041, GC-rs1155563, NADSYN1/DHCR7-rs3829251 (β = -0.036, P = 4.7 × 10⁻⁵), and DHCR7-rs1790349 (β = -0.036, P = 5.7 × 10⁻⁵). Conditional analyses indicated that GC-rs4588 and GC-rs2282679 drive the associations at the GC locus in Chinese populations.