10q26 Is Associated with Increased Risk of Age-Related Macular Degeneration in the Utah Population

• DOI: 10.1007/978-0-387-74904-4_29
• Publication Date: 2007-11-30T07:07:12Z
• Authors: D. Joshua Cameron; Zhenglin Yang; Zhongzhong Tong; Yu Zhao; Alissa Praggastis; Eric Brinton; Jennifer Harmon; Yali Chen; Erik Pearson; Paul S. Bernstein; Gregory Brinton; Xi Li; Adam Jorgensen; Sara Schneider; Daniel Gibbs; Haoyu Chen; Changguan Wang; Kimberly Howes; Nicola J. Camp; Kang Zhang
• Keywords: Aging; Heterozygote; Chi-Square Distribution; Chromosomes, Human, Pair 10; Homozygote; Population; High-Temperature Requirement A Serine Peptidase 1; Polymorphism, Single Nucleotide; Linkage Disequilibrium; 3. Good health; Cohort Studies; Macular Degeneration; Logistic Models; Gene Frequency; Haplotypes; Case-Control Studies; Confidence Intervals; Odds Ratio; Humans; Promoter Regions, Genetic; Alleles

Age-related macular degeneration (AMD) includes a wide range of phenotypes. Early AMD is mainly characterized by the presence of soft dusen in the macula without visual loss, while advanced AMD is characterized by geographic atrophy (GA or dry AMD) and neovascular AMD (wet AMD) with visual loss. Despite the rising prevalence of AMD as a result of increasing life expectancy, its underlying etiology is poorly understood and there is no specific therapy. Nutritional supplements and antagonists of vascular endothelial growth factor (VEGF) have been reported to halt the progression of visual loss in wet AMD (Bressler et al., 1988). Wet AMD is usually associated with an aggressive form of visual loss due to choroidal neovascularization (CNV). Previous reports by several groups have identified a significant association between a common missense variant (Y402H) and non-coding variants in CFH and AMD in the United States (Edwards et al., 2005; Fisher et al., 2005; Hageman et al., 2005; Haines et al., 2005; Klein et al., 2005; Li et al., 2006; Maller et al., 2006) and Europe (Fisher et al., 2005; Souied et al., 2005; Despriet et al., 2006; Magnusson et al., 2006; Postel et al., 2006; Sepp et al., 2006; Simonelli et al., 2006). Recently, it was reported that rs10490924 in LOC387715 is the second major locus for AMD located at 10q locus (Conley et al., 2005; Rivera et al., 2005; Haddad et al., 2006; Maller et al., 2006; Schmidt et al., 2006). In this study we performed an association study incorporating SNP data for LOC387715 and PLEKHA1 at 10q26 and for CFH at 1q31.3 in the Utah AMD cohort. Our results support previous findings that