rs222029

This is a intron variant variant in the GC gene.

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Research that mentions this SNP (1)

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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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