rs7646054
This variant is located in the ARHGEF3 gene.
▶Research that mentions this SNP (1)
▶Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese womenAssociationN=1,080Li GH et al.(2010)· Osteoporosis International
This case-control association study of 1,080 Chinese women examined 30 SNPs in five candidate genes (PPARG, CRTAP, TDGF1, PTHR1, FLNB) and rs7646054 in ARHGEF3 within chromosome 3p14-25 for associations with bone mineral density (BMD). Multiple SNPs and haplotypes in FLNB and CRTAP showed significant associations with BMD, with the strongest association between lumbar spine BMD and rs9828717 (p=0.005; OR=1.51). CRTAP haplotype G-C of rs4076086-rs7623768 showed protective effects on femoral neck BMD (p=0.003; OR=0.43) and total hip BMD (p=0.007; OR=0.44).
About ARHGEF3
Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all ARHGEF3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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