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Human Molecular Genetics Advance Access originally published online on June 25, 2007
Human Molecular Genetics 2007 16(17):2135-2148; doi:10.1093/hmg/ddm164
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© 2007 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes

Cheryl L. Thompson1, Barbara E.K. Klein4, Ronald Klein4, Zhiying Xu1, Jennifer Capriotti1, Tripti Joshi1, Dmitry Leontiev1, Kristine E. Lee4, Robert C. Elston1 and Sudha K. Iyengar1,2,3,*

1 Department of Epidemiology and Biostatistics, 2 Department of Genetics and 3 Department of Ophthalmology, Case Western Reserve University, Wolstein Research Building, Room 1315, 2103 Cornell Road, Cleveland, OH 44106, USA and 4 Department of Ophthalmology and Visual Sciences, University of Wisconsin Medical School, Madison, WI 53706, USA

* To whom correspondence should be addressed. Tel: +1 2163685630; Fax: +1 2163684880; Email: ski{at}case.edu

Received May 6, 2007; Accepted June 21, 2007

In this study, we investigated the associations of complement factor H (CFH) and hemicentin-1 (HMCN1) with age-related macular degeneration (AMD) and renal function. Three scales, measuring the course of AMD and drusen development, were examined in two samples: the Family Age-Related Macular degeneration Study (FARMS), consisting of families ascertained through a single individual with severe AMD, and an unascertained population-based family cohort, the Beaver Dam Eye Study (BDES), which was also used to assess longitudinal changes in AMD and associations with renal function. Associations were performed by a regression accounting for known risk factors as well as familial and sibling effects. Strong evidence of the association of rs1061170 (Y402H) variation with AMD was confirmed (P = 9.15 x 10–5 in BDES, P = 0.016 in FARMS). This association was observed in multiple AMD scales, suggesting that its role is not phenotype-specific. Polymorphisms in both CFH and HMCN1 appeared to influence the longitudinal rate of change of AMD. The rs1061170 polymorphism was also associated with a reduction in estimated glomerular filtration rate (eGFR) (P = 0.046). Another CFH polymorphism, rs800292, was similarly associated with eGFR [ß = –0.90 (P = 0.022)]. Associations between rs743137 (P = 0.05) and rs680638 (P = 0.022) in HMCN1 with calculated creatinine clearance progression were also observed. Both genes appear to play a role in both AMD and renal pathophysiology. These findings support evidence for common pathways influencing ocular and renal function and suggest that further work is required on their common determinants.


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