rs11130097
This variant is located in the CRIPTO gene.
▶ClinVar annotation
▶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 CRIPTO
This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
View all CRIPTO variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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