Association of CFH, LOC387715, and HTRA1 Polymorphisms With Exudative Age-Related Macular Degeneration in Mainland Chinese

Purpose: To examine the common single-nucleotide polymorphisms in complement factor H (CFH), LOC387715, and HTRA1 genes as potential risk factors for exudative age-related macular degeneration (AMD) in the mainland Chinese. Methods: A cohort of 121 unrelated patients with exudative AMD and 132 ageand sexmatched control subjects, all unrelated ethnic Chinese from Northern China, enrolled in this study. Genomic DNA was extracted from blood leukocytes. Genotyping for CFH Y402H, LOC387715 A69S, and HTRA1 -625G>A polymorphisms was performed by analyzing amplified genomic fragments using a method of polymerase chain reaction (PCR) followed by allele specific restriction enzyme digestion and direct sequencing. Results: Frequencies of the CFH variant Y402H in AMD patients and control subjects were 10.3% and 7.6%, respectively, and were not associated with exudative AMD in our study population (p = 0.353). Significant associations were detected for exudative AMD in mainland Chinese with LOC387715 variant A69S and the HTRA1 promoter polymorphism -625G>A. Homozygote for the LOC387715 A69S polymorphism was associated with an odds ratio (OR) of 5.45 (95% confidence interval, 2.59-11.49) for exudative AMD. An odds ratio of 7.90 (95% confidence interval, 3.61-17.26) for exudative AMD was found among carriers of the homozygous HTRA1 -625G>A genotype. Individuals with both homozygous LOC387715 A69S and homozygous HTRA1 -625G>A polymorphism were associated with an odds ration of 7.94 (95% confidence interval, 3.49-18.04). Conclusions: Our data suggest that the LOC387715 and HTRA1 polymorphisms, but not the CFH Y402H, are associated with a higher risk of exudative AMD in the mainland Chinese. The low frequency of CFH Y402H variant was further confirmed among the Chinese population. CR: N. Liu, None; Y. Xu, None; N. Guan, None; J. Xu, None; X. Yang, None; K. Ma, None; H. Zhou, None; F. Zhang, None. Support: Beijing Medical Development Foundation Grant 2002-1019 and National Basic Research Program of China (973 Program) Grant 2007CB512201 236 A492 Genotype-Phenotype Correlations for Exudative AMD Associated With Homozygous HTRA1 and CFH Genotypes