rs5355
This is a variant in the SELE gene that changes a leucine to an phenylalanine.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment?Meta-analysisN=434Victor M. Salinas-Torres et al.(2018)· Pediatric Surgery International
This systematic review analyzed genetic associations with gastroschisis from 1980-2017, identifying 14 SNPs from 10 genes associated with crude risk and 30 SNPs from 14 genes with stratified risk. Four SNPs showed significant associations: rs4961 (ADD1, p=0.023), rs5443 (GNB3, p=0.002), rs1042713 (ADRB2, p=0.007), and rs1042714 (ADRB2, p=0.006). The findings suggest genetic susceptibility in gastroschisis is not restricted to gene-environment interactions, with blood pressure regulation genes playing a significant role in vascular disruption pathogenesis.
▶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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