rs75329080
This variant is located in the ITGA9 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Refinement of chromosome 3p22.3 region and identification of a susceptibility gene for bipolar affective disorderAssociationN=411Rodrigo Secolin et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Family-based association study in 74 families (96 bipolar affective disorder patients) identified rs166508 in intron 15 of the ITGA9 gene as significantly associated with bipolar disorder (P=0.0187). The rs166508 A allele showed upregulation of ITGA9 transcripts (Kruskal-Wallis P=0.0339) and was associated with an intronic deletion (r.1689_1839del) affecting exon 16, which contains microRNA binding sites that may regulate ITGA9 expression.
About ITGA9
This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]
View all ITGA9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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