Analyses of single nucleotide polymorphisms and haplotype linkage of LOC387715 and the HTRA1 gene in exudative age-related macular degeneration in a Chinese cohort.

Purpose: To investigate the effect of single nucleotide polymorphisms (SNPs) and haplotypes in the genes encoding age-related maculopathy susceptibility 2 (LOC387715/ARMS2) and high-temperature requirement A-1 (HTRA1) in a case-control study in a Chinese cohort of individuals with exudative age-related macular degeneration (AMD). Methods: We genotyped 2 SNPs, namely, LOC387715 rs10490924 and HTRA1 rs11200638, in 159 exudative AMD patients and 140 age- and sex-matched control subjects. All the four possible haplotypes of these two SNPs were detected. Comparisons of the risk genotypes and risk or protective haplotypes across multiple populations were performed. Results: Allelic or genotype association tests yielded significant results at P Conclusion: Both SNPs are significantly associated with exudative AMD in the Chinese cohort and seem to contribute equally to the disease status. A higher frequency of homozygous risk genotypes and risk haplotype and a lower frequency of protective haplotype in the Chinese may be the cause of higher prevalence of exudative AMD in the Chinese than in the whites.