rs7747909

This is a 3 prime utr variant variant in the IL17A gene.

ClinVar annotation

Benign☆☆☆
1 submitter
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Research that mentions this SNP (1)

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 degeneration
AssociationN=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.

Traits studied:AMDAge-related macular degeneration

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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