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J.R. Gilbert, N. Schnetz–Boutaud(2), S. Schmidt, A. Agarwal, E. Postel, J. Gass, P. Sternberg, M. Pericak–Vance, J. Haines; Examination of Locational Candidate Genes In Age Related Macular Degeneration . Invest. Ophthalmol. Vis. Sci. 2004;45(13):3728.
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Purpose: Age–Related Macular Degeneration (AMD) is one of the most significant causes of vision loss in the elderly. There is substantial evidence that both genes and environment play a critical role in its etiology. As part of our ongoing genetic epidemiological studies of AMD, we performed a genomic screen in 62 rigorously diagnosed multiplex families with AMD, identifying several chromosomal locations to be further examined, including 1q25–32, 10q25–26, and 14q11–13. Methods: We tested five genes on 1q (FIBL–6, OCLM, CRB1, OPTC, REN), two genes on 10q (GSTO1, PRDX3), and one gene on 14q (NRL), chosen based on their potential functional role in AMD. We tested multiple SNPs in each gene on two independent datasets. The first consisted of 93 multiplex families and the second consisted of 222 cases and 70 rigorously examined normal controls. We performed both family–based (Pedigree Disequilibrium Test) and case–control (Chi–square) analyses. Results: No significant associations were seen in either dataset for any SNPs within FIBL6, CRB1, or REN on 1q. Nominally significant results were found for one SNP in OCLM (p=0.04) and one SNP in OPTC (p=0.02) on 1q, PRDX3 (p=0.04) and a 2 SNP haplotype in GSTO1 (p=0.05) on 10q, and one SNP in NRL (p=0.02) on 14q, but none survive correction for multiple comparisons. Additional analyses considering severity of disease, APOE genotype, and environmental covariates are underway. Conclusions:Studies of additional SNPs will be necessary to definitively exclude these genes as candidates, but we can conclude that none of tested polymorphisms represents a significant risk factor for AMD.
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