rs1007856
This is a regulatory region variant variant in the ITGB5 gene.
▶Research that mentions this SNP (1)
▶Fine mapping and association studies in a candidate region for autism on chromosome 2q31–q32AssociationN=585Judith Conroy et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A case-control study in a Russian population (285 type 1 diabetes patients, 300 controls) examining 58 SNPs across 47 genes involved in fibrogenesis, endothelial dysfunction, and inflammation. Seven SNPs showed significant association with T1D susceptibility: rs3765124 (ADAMDEC1 AA genotype, OR=1.79, p=0.004), rs1007856 (ITGB5 TT genotype, OR=1.67, p=0.015), rs20579 (LIG1 CC genotype, OR=1.86, p=0.004), rs12980602 (IFNL2 allele C, OR=1.49, p=0.029), rs4986819 (PARP4 allele C, OR=1.52, p=0.044), rs1143674 (ITGA4 GG genotype, OR=2.06, p=0.002), and rs679620 (MMP3 AA genotype, OR=2.03, p=0.008).
About ITGB5
This gene encodes a beta subunit of integrin, which can combine with different alpha chains to form a variety of integrin heterodimers. Integrins are integral cell-surface receptors that participate in cell adhesion as well as cell-surface mediated signaling. The alphav beta5 integrin is involved in adhesion to vitronectin. [provided by RefSeq, Aug 2017]
View all ITGB5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…