rs8193036
This is a upstream gene variant variant in the IL17A gene.
▶Research that mentions this SNP (2)
▶Genetic polymorphisms of interleukin 17A and interleukin 17F and their association with inflammatory bowel disease in a Chinese Han populationAssociationN=620Xiaofei Zhang et al.(2013)· Inflammation Research
Case-control study of 270 UC and 82 CD patients versus 268 controls in a Chinese Han population found that IL17F rs763780 mutant allele C was significantly associated with increased Crohn's disease risk (OR 1.18, 95% CI 1.41-3.04, P=0.033) and ileocolic phenotype. IL17A rs2275913 G-197A variant showed weak association with UC disease severity, and a rare IL17A haplotype (GGTT; rs2275913/rs8193037/rs8193038/rs3804513) was a risk factor for UC (OR 4.58, P=0.034).
▶Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndromeAssociationN=316Juliane Winkelmann et al.(2008)· Movement Disorders
This prospective study of 316 HIV-positive adults identified genetic associations between inflammatory gene polymorphisms and Restless Legs Syndrome (RLS). Four IL1B SNPs (rs1143643, rs1143634, rs1143633, rs1071676) were significantly associated with RLS, with carriers of the minor allele having increased likelihood of RLS diagnosis (OR 2.56-10.3), explaining 15-17% of variance. IL17A rs8193036 was also significantly associated (OR 2.20, explaining 16% of variance) in adjusted logistic regression models.
About IL17A
This gene is a member of the IL-17 receptor family which includes five members (IL-17RA-E) and the encoded protein is a proinflammatory cytokine produced by activated T cells. IL-17A-mediated downstream pathways induce the production of inflammatory molecules, chemokines, antimicrobial peptides, and remodeling proteins. The encoded protein elicits crucial impacts on host defense, cell trafficking, immune modulation, and tissue repair, with a key role in the induction of innate immune defenses. This cytokine stimulates non-hematopoietic cells and promotes chemokine production thereby attracting myeloid cells to inflammatory sites. This cytokine also regulates the activities of NF-kappaB and mitogen-activated protein kinases and can stimulate the expression of IL6 and cyclooxygenase-2 (PTGS2/COX-2), as well as enhance the production of nitric oxide (NO). IL-17A plays a pivotal role in various infectious diseases, inflammatory and autoimmune disorders, and cancer. High levels of this cytokine are associated with several chronic inflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. The lung damage induced by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is to a large extent, a result of the inflammatory response promoted by cytokines such as IL17A. [provided by RefSeq, Sep 2020]
View all IL17A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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