rs6677604

This is a intron variant variant in the CFH gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

IGA glomerulonephritis

Kiryluk K et al. “Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.” Nature Genetics 55(7):1091-1105 (2023)
Allele G
OR 1.21
p 2.0e-17
N 38,897
Large GWAS
multi-ancestry
Kiryluk K et al. “Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.” Nature Genetics 46(11):1187-96 (2014)
Allele G
OR 1.35
p 5.0e-14
N 6,699
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome
ReviewHeinen S. et al.(2006)· Human Mutation

This is a comprehensive review of the complement factor H (FH) protein family and its role in preventing self-damage from dysregulation of the complement alternative pathway. The paper examines genetic variants in CFH and factor H-related genes (CFHR1-CFHR5) that predispose to age-related macular degeneration, atypical hemolytic uremic syndrome, C3 glomerulopathies, and IgA nephropathy. Key findings include the role of FHR proteins as complement antagonists that compete with FH, and how genetic variations including deletions (ΔCFHR3-CFHR1), hybrid genes, and altered protein expression contribute to disease pathogenesis.

Traits studied:Age-related macular degenerationAtypical hemolytic uremic syndromeC3 glomerulopathyIgA nephropathyMembranoproliferative glomerulonephritisSystemic lupus erythematosus
PubMedDOIMetascience Observatory

About CFH

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

View all CFH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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