rs1805193
This is a intron variant variant in the SELE gene.
▶Research that mentions this SNP (1)
▶Association of E‐selectin gene polymorphisms with ischemic stroke in a Chinese Han populationAssociationN=703Dong‐Xue Zhao et al.(2012)· Journal of Neuroscience Research
A case-control study of 314 Chinese Han ischemic stroke patients and 389 healthy controls examined the association of three E-selectin gene SNPs (rs1805193, rs5361, rs5355) with stroke risk. The A561C variant (rs5361) showed significantly higher frequency in stroke patients, with an adjusted odds ratio of 2.73 (95% CI: 1.29-5.76, P=0.008) for the AC genotype and 2.80 (95% CI: 1.58-4.94, P<0.001) for the C allele. The association remained significant in males but not females.
About SELE
The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008]
View all SELE variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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