rs10484879
This is a intron variant variant in the IL17A gene.
▶Research that mentions this SNP (3)
▶Functional single nucleotide polymorphism in IL−17A 3′ untranslated region is targeted by miR‐4480 in vitro and may be associated with age‐related macular degenerationAssociationN=899Nicholas A. Popp et al.(2016)· Environmental and Molecular Mutagenesis
This association and functional study identified rs7747909 in the IL-17A 3' UTR as associated with age-related macular degeneration (AMD) in a NEI cohort (p=0.0022, OR=1.73) but the association failed to replicate in the AREDS cohort. Functional experiments demonstrated that rs7747909 affects microRNA-4480 binding to IL-17A mRNA in an allele-specific manner, with the G allele showing stronger miRNA binding and reduced luciferase expression (~40% suppression, p<0.001) compared to the A allele.
▶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).
▶Genetic epistasis of IL23/IL17 pathway genes in Crohnʼs diseaseAssociationN=1,017Dermot P.B. McGovern et al.(2009)· Inflammatory Bowel Diseases
This case-control study of 763 Crohn's disease cases and 254 healthy controls investigated 10 genes in the IL23/IL17 pathway, identifying novel haplotype associations in IL17A (p=0.02), IL17RA (p=0.001), IL17RD (p=0.001), IL12RB1 (p=0.003), and IL12RB2 (p=0.001). Combined risk haplotypes from multiple pathway genes showed cumulative effect with OR=4.3 for 5 risk haplotypes (p=1.7×10⁻⁷), and significant epistatic interactions were observed between IL17A and IL23R variants (p=0.047) and between IL17RA and IL23R variants (p=0.036).
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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