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Genetics of Pigment Changes and Geographic Atrophy

¹From the Departments of Epidemiology and Biostatistics, and ³Ophthalmology, Case Western Reserve University, Cleveland, Ohio; and the ²Department of Ophthalmology and Visual Sciences, University of Wisconsin Medical School, Madison, Wisconsin.

PURPOSE. Studies of age-related macular degeneration (AMD) often involve persons with both choroidal neovascularization and geographic atrophy (GA), but few genome-wide scans (GWSs) have discriminated between these two outcomes.

METHODS. To comprehend the role of pigmentary abnormalities (PA) and GA in AMD, the authors analyzed the data from a previous GWS on AMD (FARMS [Family Age-Related Maculopathy Study]sample of 34 extended families) looking only at PA. Presented are new GWS data from the full Beaver Dam Eye Study (BDES) family cohort, including longitudinal data at baseline and 5- and 10-year follow-up. A linkage analysis for PA/GA was performed on both samples for 338 markers covering all autosomes. Another linkage analysis using the rate of change along the PA/GA scale was performed with the BDES sample.

RESULTS. Analysis of the FARMS sample provided evidence for linkage with P < 0.01 in the 1q25, 5p13, 6q21-23, and 11q14 regions. The most significant peak was found on chromosome 1, near complement factor H (CFH), with P= 6.20 x 10^–4. Analysis using the rate of change in BDES replicated the peaks in 5p13 and 6q21-23, suggesting that these loci may contribute to the rate of progression of PA/GA. Association analysis of CFH polymorphisms suggest that CFH may play a role in the development of pigmentary abnormalities and may modify the progression along the PA/GA scale.

CONCLUSIONS. These findings suggest a complex, heterogeneous model for PA/GA.

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				A. O. Edwards, D. Chen, B. L. Fridley, K. M. James, Y. Wu, G. Abecasis, A. Swaroop, M. Othman, K. Branham, S. K. Iyengar, et al. Toll-like Receptor Polymorphisms and Age-Related Macular Degeneration Invest. Ophthalmol. Vis. Sci., April 1, 2008; 49(4): 1652 - 1659. [Abstract] [Full Text] [PDF]

				C. L. Thompson, B. E.K. Klein, R. Klein, Z. Xu, J. Capriotti, T. Joshi, D. Leontiev, K. E. Lee, R. C. Elston, and S. K. Iyengar Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes Hum. Mol. Genet., September 1, 2007; 16(17): 2135 - 2148. [Abstract] [Full Text] [PDF]