rs7944926

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 cohort study of 1,924 very low birth weight preterm infants examined whether genetic predisposition for vitamin D deficiency (based on three SNPs: rs12794714, rs7944926, and rs2282679) was associated with adverse outcomes. The study found no significant associations between low genetic vitamin D level estimates and prematurity complications (IVH, PVL, BPD, NEC, sepsis, ROP), growth parameters, or bone fractures at age 5 years.