rs2477664
This is a synonymous variant in the MRC1 gene — it does not change the protein's amino acid sequence.
▶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.
aspartate aminotransferase measurement
▶Research that mentions this SNP (1)
▶Genetic variants in the mannose receptor gene (MRC1) are associated with asthma in two independent populationsAssociationN=1,046Takeshi Hattori et al.(2009)· Immunogenetics
This case-control association study examined 7 SNPs in the MRC1 gene (mannose receptor) in 870 Japanese and 176 African-American subjects. Five SNPs (rs2477637, rs2253120, rs2477664, rs692527, rs1926736) showed suggestive association with asthma in the Japanese population (OR range 0.76-1.34, p<0.05), while rs692527 and rs691005 were significantly associated in African-Americans (OR 2.17 and 1.81 respectively, p<0.01). Haplotypes containing rs692527 and rs1926736 were significantly associated with asthma in both populations, suggesting MRC1 variants contribute to asthma susceptibility across ethnicities.
About MRC1
The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]
View all MRC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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