rs3901533
This is a intron variant variant in the CLEC7A gene.
▶Research that mentions this SNP (2)
▶IL17Agene polymorphisms, serum IL-17A and IgE levels, and hepatocellular carcinoma risk in patients with chronic hepatitis B virus infectionAssociationN=577Na Li et al.(2014)· Molecular Carcinogenesis
Immunogenetic study of pulmonary tuberculosis in a Spanish population (n=577), investigating HLA, KIR genes, and immune response genes. Found associations of HLA alleles (HLA-A*02, HLA-B*07, HLA-C*08, HLA-DRB1*04) with TB susceptibility/resistance, KIR gene distributions with TB progression, CCL5 promoter polymorphisms (rs2280788, rs2107538) with TB susceptibility, IL-17 rs2275913 -152G allele with increased TB risk (OR 1.40), TLR1 rs5743618 (T1805G) in recessive model, and Dectin-1/CARD9 haplotypes (rs3901533, rs7309123, rs16910526, rs4077515) associated with TB susceptibility.
▶Interleukin‐17 gene polymorphisms are associated with bladder cancer in a chinese han populationAssociationN=1,060Bin Zhou et al.(2013)· Molecular Carcinogenesis
A retrospective case-control study investigating immunogenetic factors in pulmonary tuberculosis (TBP) conducted in Cantabria, Spain with 318 TBP patients, 218 latently infected (ITL) individuals, and 524 healthy controls. Multiple HLA alleles and immune-related genetic polymorphisms were analyzed for association with TB susceptibility. Key findings include HLA-B07, B08, B14, B44 as protective factors against active disease; the IL-17 -152G allele (rs2275913) and GG genotype significantly more frequent in TBP patients (OR 1.40-1.59, p<0.02); TLR1 1805G polymorphism (rs5743618) associated with TB susceptibility; and KIR gene frequency variations between study groups.
About CLEC7A
This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
View all CLEC7A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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