Analysis of Major Alleles Associated with Age-Related Macular Degeneration in Polish Patients

Abstract

Purpose: : Alleles in four loci - complement factor H (CFH), ARMS2/HTRA1 on 10q26, complement component 2/complement factor B (C2/CFB) and complement component 3 (C3) - are strongly associated with age-related macular degeneration (AMD) in several populations. We analyzed the distribution of major AMD-associated alleles in AMD patients and matched controls of Polish descent.

Methods: : One hundred AMD patients and 95 controls matched by age and ethnicity were recruited at the Department of Ophthalmology, Medical University, Lublin, Poland. After full informed consent, genomic DNA was isolated from peripheral blood leukocytes with QIAamp DNA Blood Maxi kits (Qiagen, Valencia, CA). DNA samples were screened for allele and genotype frequencies of haplotype-tagging (ht) SNPs in the CFH (rs1061170, rs1410996, rs529825), ARMS2 (rs10490924), C2/CFB (rs641153 and rs547154) and C3 (rs2230199) genes by PCR-RFLP and/or TaqMan assays (Applied Biosystems). Statistical analyses were performed by standard 2 x 2 table and Fisher exact tests.

Results: : The age of Polish AMD cases was 78.1±7.6 and 70.8±8.2 for controls. The female-to-male ratio was 55:45 in patients with AMD and 60:35 in controls. Genotyping was correlated with clinical characteristics. Similar to our previous studies on a European-American population, a strong association was observed between AMD status and frequencies of all major AMD-associated alleles in the Polish population.

Conclusions: : Our data suggest that the frequencies of htSNPs in the four major AMD-associated loci are strongly associated with the risk of exudative AMD in Polish population. Our study further contributes to the evaluation of ethnic variation and geographic distribution of AMD-associated alleles.

Keywords: age-related macular degeneration • genetics • clinical (human) or epidemiologic studies: prevalence/incidence