rs7248637

This variant is located in the CD209 gene.

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Research that mentions this SNP (1)

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Association of a functional polymorphism in the promoter region of TLR‐3 with osteoarthritis: A two‐stage case–control study
AssociationN=292Hsin‐Yi Yang et al.(2013)· Journal of Orthopaedic Research

Case-control study of 292 Colombian subjects (191 dengue cases, 101 controls) evaluating associations between dengue susceptibility and polymorphisms in IL6R (rs8192284), TLR3 (rs3775290), and DC-SIGN (rs7248637). In Afro-Colombians, the C allele of rs8192284 was protective (OR=0.425, p=0.020), while the A alleles of rs7248637 and rs3775290 increased risk (OR=2.389, p=0.015 and OR=2.329, p=0.005 in Mestizos). The CAG allelic combination remained significantly associated with dengue after Amerindian ancestry adjustment (OR=2.16, p=0.028).

Traits studied:Dengue feverDengue hemorrhagic feverDengue shock syndrome
PubMedDOIMetascience Observatory

About CD209

This gene encodes a C-type lectin that functions in cell adhesion and pathogen recognition. This receptor recognizes a wide range of evolutionarily divergent pathogens with a large impact on public health, including leprosy and tuberculosis mycobacteria, the Ebola, hepatitis C, HIV-1 and Dengue viruses, and the SARS-CoV acute respiratory syndrome coronavirus. The protein is organized into four distinct domains: a C-terminal carbohydrate recognition domain, a flexible tandem-repeat neck domain, a transmembrane region and an N-terminal cytoplasmic domain involved in internalization. This gene is closely related in terms of both sequence and function to a neighboring gene, CLEC4M (Gene ID: 10332), also known as L-SIGN. The two genes differ in viral recognition and expression patterns, with this gene showing high expression on the surface of dendritic cells. Polymorphisms in the neck region are associated with protection from HIV-1 infection, while single nucleotide polymorphisms in the promoter of this gene are associated with differing resistance and susceptibility to and severity of infectious disease, including rs4804803, which is associated with SARS severity. [provided by RefSeq, May 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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