rs222035

This is a downstream gene variant variant in the GC gene.

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Research that mentions this SNP (2)

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Association between variants in vitamin D‐binding protein gene and vitamin D deficiency among pregnant women in china
AssociationN=815Jinju Dong et al.(2020)· Journal of Clinical Laboratory Analysis

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).

Traits studied:25-hydroxyvitamin D concentrationMacrosomiaVitamin D deficiency
PubMedDOIMetascience Observatory
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Association analyses of vitamin D-binding protein gene with compression strength index variation in Caucasian nuclear families
AssociationN=1,873Xu XH et al.(2010)· Osteoporosis International

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.

Traits studied:Bone mineral densityCompression strength indexFemoral neck geometryHip fracture risk
PubMedDOIMetascience Observatory

About GC

The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

View all GC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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