rs380390
This variant is located in the CFH 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.
age-related macular degeneration
▶Research that mentions this SNP (1)
▶Evidence for association between multiple complement pathway genes and AMDAssociationN=146Valentin Dinu et al.(2007)· Genetic Epidemiology
A pathway-focused genetic analysis identified associations between complement pathway genes and age-related macular degeneration (AMD) subtypes using 146 AMD cases and controls. The study confirmed the previously identified CFH Y402H variant (rs1061170) strongly associated with AMD (OR 0.16-0.35 for protection), and identified two additional complement pathway genes—C7 and MBL2—potentially associated with disease progression, particularly the C7 H2 haplotype (rs2329434/rs2876849 variants) that conferred protection against wet AMD among CFH 402H homozygotes (p=0.001, OR 0.16, 95% CI 0.05-0.49).
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…