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W. T. Smith, J. J. Wang, G. Burlutsky, C.-C. Chan, S. K. Iyengar, J. Tuo, C. Xing, P. Mitchell, Blue Mountains Eye Study; Complement Factor H, LOC387715 and Age-Related Macular Degeneration: Population-Based Case Control Study. Invest. Ophthalmol. Vis. Sci. 2007;48(13):2883.
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Clinically based case-control studies have reported independent contributions from the complement factor H (CFH) and LOC387715 genes to the risk of age-related macular degeneration (AMD). We aimed to confirm this finding in a population-based case-control study.
Cases and controls drawn from the Blue Mountains Eye Study population included 789 subjects (261 cases; 211 early and 50 late, and 528 controls matched for age, gender and smoking). For families with multiple members, only the youngest member of each family was analysed. Subjects were genotyped for the CFH 1061170 locus using Taqman assays and for the LOC387715 (rs#10490924) using PCR-RFLP and Taqman assays. AMD was graded using the Wisconsin ARM photographic grading system. Effects of the 2 gene loci on AMD risk were assessed using logistic regression models that adjusted for age, sex and smoking. Additive and dominant models for the gene risk alleles were used.
The CFH CC genotype (risk) was found in 15.1% of the sample, CT in 49.4% and TT genotype in 35.5%. The LOC387715 TT genotype (risk) was found in 3.5%, GT in 35.5% and GG in 61.0%. Only two subjects (0.3%) were homozygous for risk at both CFH (CC) and LOC387715 (TT) and were both late AMD cases. Compared to the CFH TT genotype, a gradient pattern of increasing risk for any (early or late) AMD was evident (odds ratio, OR 1.6, 95% confidence intervals, CI 1.1-2.3 for CT and OR 3.9, CI 2.5-6.2 for CC). Compared to LOC387715 GG genotype, corresponding risks for any AMD showed a similar pattern (OR 1.9, CI 1.4-2.7 for GT and OR 2.6, CI 1.2-5.6 for TT). Using dominant models to assess joint effects of both gene loci, persons with any risk alleles in both CFH (CC or CT) and LOC387715 (GT or TT) had similar risks for any or late AMD as those with the homozygous CFH CC risk alleles (any AMD: OR 3.6, CI 2.3-5.8 vs OR 3.9 for CFH CC; late AMD: OR 7.7, CI 2.5-23.3 vs OR 11.0, CI 4.2-28.8 for CFH CC).
Our data confirm independent effects from the CFH and the LOC387715 risk alleles on the risk of AMD, but do not show joint effects or interaction of these two gene loci on AMD risk using dominant models.
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