rs3791782
This is a 3 prime utr variant variant in the MSTN gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association between myostatin gene polymorphisms and peak BMD variation in Chinese nuclear familiesAssociationN=1,260Zhang ZL et al.(2008)· Osteoporosis International
This family-based association study identified 17 polymorphisms in the myostatin gene and tested three informative SNPs (rs2293284, rs7570532, and +2278G>A) for association with peak bone mineral density (BMD) in 401 Chinese nuclear families (1,260 individuals). Using quantitative transmission disequilibrium test (QTDT), rs2293284 showed significant within-family association with hip BMD (femoral neck, trochanter, total hip; all p<0.05), while rs7570532 was associated with total hip and trochanter BMD (p=0.034 and p=0.035). The +2278G>A variant (predicting Glu153Lys) showed significant association with BMI (p=0.022).
About MSTN
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein negatively regulates skeletal muscle cell proliferation and differentiation. Mutations in this gene are associated with increased skeletal muscle mass in humans and other mammals. [provided by RefSeq, Jul 2016]
View all MSTN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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