Complement factor H polymorphisms, renal phenotypes and age-related macular degeneration: the Blue Mountains Eye Study

Genes Immun. 2008 Apr;9(3):231-9. doi: 10.1038/gene.2008.10. Epub 2008 Mar 13.

Abstract

Complement factor H (CFH) is a key regulator of the alternative pathway of complement and its mutations have been associated with membranoproliferative glomerulonephritis type II, atypical hemolytic uremic syndrome and age-related macular degeneration (AMD), suggesting that alternative pathway dysregulation is a common pathogenetic feature of these ocular and renal conditions. In this study we tested the hypothesis that common CFH variants have a global role in renal function in the Australian population-based Blue Mountains Eye Study (BMES). We replicated the association of I62V with estimated glomerular filtration rate (GFR; P=0.017) and creatinine clearance (CRCL; P=0.015). The minor allele of I62V (G) was deleterious: adding one copy of the G allele decreased GFR/CRCL by approximately 0.98 ml min(-1) per 1.73 m(2) (95% confidence interval (CI): 0.97, 0.99). We also replicated the association of Y402H with AMD and provided an unbiased estimate of population attributable risk (PAR). The minor allele of Y402H (C) was deleterious: the odds ratio estimate of CC genotype compared to TT was 1.87 (95% CI: 1.44, 2.45). The PAR of the C allele was estimated as 0.22 (95% CI: 0.15, 0.28). In summary, in the BMES population we confirmed the association between I62V and renal function, as measured by the estimated GFR, plus the association of Y402H with both early- and late-stage AMD.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Complement Factor H / genetics
  • Complement Pathway, Alternative / genetics*
  • Gene Frequency
  • Genetics, Population*
  • Humans
  • Kidney / pathology*
  • Macular Degeneration / epidemiology*
  • Macular Degeneration / genetics*
  • Mutation, Missense / genetics
  • New South Wales / epidemiology
  • Odds Ratio
  • Phenotype*

Substances

  • CFH protein, human
  • Complement Factor H