rs7633550
This variant is located in the AHSG gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶AHSG gene variant is associated with leanness among Swedish menAssociationN=504Catharina Lavebratt et al.(2005)· Human Genetics
This case-control study examined AHSG gene variants in 504 Swedish men (356 overweight/obese, 148 lean) and found that rs2593813 G/G genotype was more common in lean individuals (OR=2.01, P=0.009). The rs2593813:G-rs4917:Met-rs4918:Ser haplotype conferred increased risk for leanness (OR=1.90, P=0.027). These variants were in strong LD and associated with lower AHSG protein levels, supporting the hypothesis that reduced AHSG promotes insulin sensitivity and leanness.
About AHSG
The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]
View all AHSG variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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