- Title
- Complement factor H polymorphisms, renal phenotypes and age-related macular degeneration: the Blue Mountains Eye Study
- Creator
- Xing, C.; Sivakumaran, T. A.; Wang, J. J.; Rochtchina, E.; Joshi, T.; Smith, W.; Mitchell, P.; Iyengar, S. K.
- Relation
- Genes and Immunity Vol. 9, Issue 3, p. 231-239
- Publisher Link
- http://dx.doi.org/10.1038/gene.2008.10
- Publisher
- Nature Publishing Group
- Resource Type
- journal article
- Date
- 2008
- Description
- 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 ~0.98 ml min⁻¹ per 1.73 m² (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.
- Subject
- CFH; AMD; GFR; creatinine clearance
- Identifier
- uon:5036
- Identifier
- http://hdl.handle.net/1959.13/42897
- Identifier
- ISSN:1466-4879
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