Complement factor H polymorphisms associated with exudative or dry AMD in the Spanish population.

Abstract

Purpose: To elucidate the potential role of single nucleotide polymorphisms (SNPs) in complement factor H (CFH) gene in Spanish patients with aged-related macular degeneration (AMD).

Methods: A case-control study of 136 (46 dry, 37 wet, 53 dry + wet) unrelated native Spanish diagnosed with AMD and 106 controls matched by age and ethnicity were enrolled. DNA was isolated from peripheral blood and subjected to genotyping for AMD-associated SNPs (rs3753394, rs529825, rs800292, rs3766404, rs203674, rs3753396, rs1065489 and rs10671170) using TaqMan probes and restriction fragment-length polymorphism (RFLP). The association study was performed using the HaploView 4.0 software.

Results: The allelic frequency analysis revealed that rs529825, rs800292, rs3766404, rs203674 and rs10671170 were significantly associated with an increased risk for AMD. The haplotypes CGG (rs529825, rs800292 and rs233674) and GCAG (rs203674, rs1061170, rs3752296 and rs1065489), were significantly associated with AMD whereas the haplotypes CAA (rs529825, rs800292 and rs233674) and TTAG (rs203674, rs1061170, rs3752296 and rs1065489) were found to be protective. Small differences in allelic frequencies were found between dry or exudative cases, these differences were not significant and did not distinguish the two clinical forms of AMD

Conclusions: This study confirmed significant association of SNPs rs529825, rs800292, rs3766404, rs203674 and rs1061170 in the CFH gene with susceptibility to AMD in the Spanish population. We identified haplotypes that confer protection or increased risk of AMD. We did not find any specific genetic variant in CFH capable to distinguish the different clinical forms of AMD in this cohort. Collectively, our results confirmed that CFH represents a strong genetic risk factor for this disease in the Spanish population.