Association of Complement Factor D Polymorphism in Age-Related Macular Degeneration

Abstract

Purpose: : Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in developed world. Genetic variations in alternative complement pathway have been implicated in the etiology of AMD. The purpose of this study is to investigate the association of the single nucleotide polymorphisms (SNPs) of complement factor D (CFD) with AMD..

Methods: : we genotyped tagging SNPs rs1651896, rs1683563, rs1683564, rs35186399, rs3826945 in CFD gene in 179 AMD patients and 164 normal controls. Allele frequencies and association were analyzed between AMD and normal controls by a chi square test.

Results: : There is no significant difference of allele frequencies or association between AMD cases and controls in rs1651896 (p=7.0x10^-2, A allele: 37.4% in cases versus 30.7% in controls); rs1683563 (p=2.5x10^-1, C allele: 99.4% in cases versus 99.7% in controls); rs1683564 (p=7.1x10^-1, T allele: 57.6% in cases versus 59.1% in controls); rs35186399 (p=6.6x10^-1, G allele: 99.4% in cases versus 99.7% in controls); rs3826945 (p=3.1x10^-1, A allele: 65.4% in cases versus 69.1% in controls).

Conclusions: : Our findings did not support genetic association of CFDwith AMD. Further study with a large samples size is required to validate these preliminary findings. We can not exclude involvement of other haplotypes of CFD in AMD risk. Increased understanding of genetic risk for AMD may provide better diagnostics and therapies in the future.

Keywords: age-related macular degeneration • genetics