rs3753394
This is a regulatory region variant variant 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.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genetic variants of complement genes Ficolin-2, Mannose-binding lectin and Complement factor H are associated with leprosy in Han Chinese from Southwest ChinaAssociationN=1,110Deng-Feng Zhang et al.(2013)· Human Genetics
Genetic variants in three complement pathway genes (FCN2, MBL2, CFH) were associated with leprosy susceptibility in 527 Han Chinese patients and 583 controls. Significant variants included FCN2 rs3811140 (OR=2.227, P=0.029) and rs7851696 (OR=2.342, P=0.019) for paucibacillary leprosy, MBL2 rs7100749 and rs11003124 for overall leprosy, and CFH rs3753395 (OR=0.822, P=0.031) and rs1065489 (OR=0.834, P=0.036) showing protective effects. Haplotype CAG in CFH showed strong risk (OR=1.499, P=0.0006) while MBL2 variants demonstrated variable effects on leprosy subtypes.
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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