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E. A. Postel, P. Gallins, W. K. Scott, S. Schimdt, M. A. Hauser, J. L. Hainers, M. A. Pericak-Vance; Examination of Genetic Variants in HTRA1 and LOC387715 Within the 10q26 Region in Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4624.
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Age-related macular degeneration (AMD) is a common complex disorder that affects the central region of the retina and is the leading cause of legal blindness in Caucasian Americans aged >65 years. Along with the Y402H variant of the complement factor H gene (CFH) on chromosome 1q32, several other genetic variants within 10q26 have been identified as susceptibility loci for AMD. However, the exact susceptibility variant within 10q26 is currently unknown.
We compared two previously proposed SNPs, rs10490924 in LOC387715 and rs11200638 in HTRA1 (r2=0.93), by performing an association analysis in two unrelated datasets, one case-control one family-based. The case-control dataset included 644 cases and 265 controls and was analyzed by logistic regression using an additive model with adjustment for age and sex. The family-based dataset included cases with at least one sampled relative (n = 205 families), and were analyzed for association using the APL (Association in the Presence of Linkage) statistic.
In the case-control dataset, both variants had strong association with AMD (P < 0.0001), with similar odds ratios (rs10490924: 2.13 (95% CI 1.65-2.75); rs11200638: 2.00 (95% CI 1.56-2.57)). Using only cases with neovascularization (n=405) and controls with no drusen (n=193), the results were similar but the odds ratios stronger (rs10490924: 2.98 (95% CI 2.14-4.16); rs11200638: 2.80 (95% CI 2.03-3.88)). These data suggest the risk may be stronger for neovascular AMD. The association results in the family-based dataset, although not as strong, confirmed these effects (rs11200638 (P = 0.02), rs10490924 (P = 0.05).
These data do not allow us to differentiate between the potential roles of LOC387715 and HTRA1 in AMD.
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