rs4077515
This is a variant in the CARD9 gene that changes a serine to an asparagine.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Crohn's disease
protein measurement
IGA glomerulonephritis
ulcerative colitis
▶ClinVar annotation
Predisposition to invasive fungal disease due to CARD9 deficiency (IMD103); not specified
View on ClinVar →▶Research that mentions this SNP (3)
▶A CARD9 single-nucleotide polymorphism rs4077515 is associated with reduced susceptibility to and severity of primary immune thrombocytopeniaAssociationN=618Zi Sheng et al.(2019)· Annals of Hematology
This case-control study of 294 Chinese Han ITP patients and 324 healthy controls found that the CARD9 rs4077515 polymorphism A allele was associated with reduced susceptibility to immune thrombocytopenia (codominant model: OR=0.175, 95% CI=0.054-0.776, p=0.001) and reduced severity (A allele: OR=0.685, 95% CI=0.476-0.985, p=0.041). The GG/AG genotypes showed increased ITP susceptibility (OR=6.183, 95% CI=2.287-16.715, p<0.001) compared to the AA genotype.
▶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 CARD9
The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
View all CARD9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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