The association between complement factor H rs1061170 polymorphism and age-related macular degeneration: a comprehensive meta-analysis stratified by stage of disease and ethnicity

Abstract

Purpose: The strength of association between complement factor H (CFH) rs1061170 polymorphism and age-related macular degeneration (AMD) differs between AMD subtypes and ethnicities. The main aim was to provide a systematic review and an updated meta-analysis stratified by stage of disease and ethnicity.

Methods: A literature search in the PubMed-Medline, EMBASE and Web of Science databases was conducted to identify epidemiological studies, published before September 2017, that included at least twp comparison groups (a control group with no signs of AMD and a case group of AMD patients). Genotype distribution, phenotype of the cases, ethnicity, mean age and gender ratio were collected. Odds ratios (ORs) and 95%CIs were estimated under the allelic, homozygous and heterozygous models. Sensitivity and subgroup analyses, by AMD subtype and ethnicity, were performed.

Results: The meta-analysis included data of 27 418 AMD patients and 32 843 controls from 76 studies. In Caucasians, the rs1061170 showed a significant association with early AMD (OR: 1.44; 95%CI 1.27-1.63), dry AMD (OR: 2.90; 95%CI 1.89-4.47) and wet AMD (OR: 2.46; 95%CI 2.15-2.83), under an allelic model. In Asians, the rs1061170 showed a significant association with advanced AMD (OR: 2.09; 95%CI 1.67-2.60), especially wet AMD (OR: 2.24; 95%CI 1.81-2.77).

Conclusion: Our work provides a more comprehensive meta-analysis of studies investigating the effect of the CFH rs1061170 polymorphism on AMD risk. These findings not only improve the assessment of disease risk associated with the polymorphism, but also constitute a scientific background to be translated into clinical practice for AMD prevention.

Keywords: ageing; complement factor H; disease subtype; race; retinal degeneration; single nucleotide polymorphisms.