Polymorphisms in CFH, HTRA1 and CX3CR1 confer risk to exudative age-related macular degeneration in Han Chinese.

BACKGROUND/AIMS Single nucleotide polymorphisms (SNPs) in Complement Factor H (CFH), HTRA1 and CX3CR1 are associated with age-related macular degeneration (AMD) in Caucasian population. We aimed to determine whether, and of what magnitude, these AMD susceptibility SNPs are associated with exudative AMD in Han Chinese. METHODS Exudative AMD cases and age-matched controls were recruited from Nantong University Hospital (109 cases, 150 controls). Six SNPs in CFH, HTRA1 and CX3CR1 were genotyped. The allele/genotype frequencies were compared between the case and the control. Interactions of SNP-SNP or SNP-smoking status were assessed. RESULTS The CFH rs800292 showed significant associations with a reduced risk for exudative AMD. CX3CR1 V249I and T280M and the HTRA1 promoter SNP were significantly associated with the risk of exudative AMD. The two SNPs in CX3CR1 were in complete linkage disequilibrium. None of the AMD-susceptibility SNPs had interactions with each other or with smoking status to confer an altered AMD risk. CONCLUSIONS We have replicated the associations of the CFH and HTRA1 SNPs and report for the first time the association of CX3CR1 with exudative AMD in Han Chinese. There was no interaction among the SNPs from different genes, indicating that they might alter the AMD risk independently.