rs368433
This is a intron variant variant in the FCGR2A gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
defense response to other organism process attribute
▶Research that mentions this SNP (1)
▶Identification of Genetic Loci Associated With Helicobacter pylori Serologic StatusAssociationN=10,938Julia Mayerle et al.(2013)· JAMA
GWAS meta-analysis of 10,938 participants identified two genome-wide significant loci associated with Helicobacter pylori seroprevalence: the TLR1 locus at 4p14 (rs10004195, OR=0.70, P=1.4×10^-18) and the FCGR2A locus at 1q23.3 (rs368433, OR=0.73, P=2.1×10^-8). Whole-blood transcriptome analysis revealed that rs10004195 is associated with differential expression of TLR1 (β=-0.23, P=2.1×10^-4), and individuals with high fecal H. pylori antigen titers exhibited elevated TLR1 expression levels.
About FCGR2A
This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
View all FCGR2A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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