rs267561

This variant is located in the ITGA9 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

pulse pressure measurement

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)

Allele A

OR 0.11

p 1.0e-10

N 1,164,961

Meta-analysisLarge GWAS

European

systolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)

Allele A

OR 0.16

p 1.0e-13

N 1,164,961

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

not specified; ITGA9-related disorder; not provided

View on ClinVar →

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Research that mentions this SNP (1)

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Refinement of chromosome 3p22.3 region and identification of a susceptibility gene for bipolar affective disorder

AssociationN=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.

Traits studied:Bipolar affective disorder (BPAD)

PubMed DOI Metascience Observatory

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]