Journal Article

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

Cheryl L. Thompson, Barbara E.K. Klein, Ronald Klein, Zhiying Xu, Jennifer Capriotti, Tripti Joshi, Dmitry Leontiev, Kristine E. Lee, Robert C. Elston and Sudha K. Iyengar

in Human Molecular Genetics

Volume 16, issue 17, pages 2135-2148
Published in print September 2007 | ISSN: 0964-6906
Published online June 2007 | e-ISSN: 1460-2083 | DOI:
Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes

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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 × 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 [β = −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.

Journal Article.  9775 words.  Illustrated.

Subjects: Genetics and Genomics

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