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H. Guan, X. Yang, J. Hu, J. Zhang; Polymorphisms in CFH, HTRA1 and CX3CR1 Confers Risk to Exudative AMD in Han Chinese. Invest. Ophthalmol. Vis. Sci. 2009;50(13):1596.
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Single nucleotide polymorphisms (SNPs) in CFH, PLEKHA1/LOC387715/HTRA1 and CX3CR1 are associated with age-related macular degeneration (AMD) in Caucasian population. This study aims to determine whether and in what magnitude the AMD-susceptibility SNPs that were reported in Western population are associated with Han Chinese AMD patients.
Exudative AMD cases and age-matched controls were recruited from Nantong University Hospital (case: N=109, controls: N=150). Seven SNPs in CFH, HTRA1 and CX3CR1 were genotyped. The genotype frequencies were compared between the case and control. Interactions of SNP-SNP or SNP-smoking status were assessed.
Two CFH SNPs (rs380390 and rs800292), but not the CFH Y402H, showed significant independent associations with exudative AMD. CX3CR1 V280I and the HTRA1 promoter SNP are also significantly associated with exudative AMD. Among the 4 AMD-susceptibility SNPs, the rs800292 if counted by alleles and the CX3CR1 V280I if counted by risk allele carriers confer the highest AMD risk. We did not find the linkage disequilibrium of rs380390 and CFH Y402H in control or case groups. None of the AMD-SNPs have interaction with smoking status to confer higher AMD risk.
A clear association was determined between CFH, CX3CR1 and HTRA1 SNPs and exudative AMD in Han Chinese. Although the data replicated the most AMD-susceptibility SNPs in Caucasian populations, we detected a distinctive profile of AMD-SNPs in Han Chinese. We conclude that the SNPs that were reported in Western population should be verified and refined in other ethnicities due to the presence of racial-specific AMD genetic risk.
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