Purpose To investigate the association of single nucleotide polymorphism (SNPs) in HTRA1 and CFH with exudative age-related macular degeneration (AMD) in Chinese and Caucasian populations.
Methods The study included 100 Chinese wet AMD patients and 131 normal controls from West China Eye Center, China, and 600 Caucasian wet AMD patients and 600 controls from Shiley Eye Center at the University of California, San Diego. Genomic DNA was extracted from peripheral blood samples and three SNPs were analyzed: rs10490924 (HTRA1), rs1061170 (CFH), and rs2274700 (CFH).
Results Risk alleles of all SNPs were the same in both Chinese and Caucasian populations. For rs10490924 (HTRA1), the risk allele frequencies were 73.0% in AMD patients and 39.8% in controls in the Chinese population (P=1.68E-12) and 39.8% in AMD patients and 23.7% in controls in the Caucasian population (P<2.0E-07). The risk allele frequencies of rs2274700 (CFH) were 69.7% in AMD patients and 55.3% in controls in the Chinese population (P=0.0017), while the frequencies were 77.4% in AMD patients and 56.0% in controls in the Caucasian population (P<0.001). In the Chinese population, the risk allele of rs1061170 (CFH) had a much higher frequency in AMD patients (16.5%) than controls (5.6%) (P=0.00022). In the Caucasian population, the risk allele frequencies of rs1061170 were 54.5% in AMD patients and 38.5% in controls (P<3.0E-08).
Conclusions rs10490924 (HTRA1), rs1061170 (CFH), and rs2274700 (CFH) were all associated with wet AMD in both Chinese and Caucasian populations. The risk allele frequencies of rs10490924 (HTRA1) and rs1061170 (CFH) varied significantly between the two populations. Our results suggest that HTRA1 is a major AMD susceptibility gene in the Chinese population. |
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