Association between complement factor H Val62Ile polymorphism and age-related macular degeneration susceptibility: A meta-analysis

• Published in: Gene Vol. 538; no. 2; pp. 306 - 312
• Main Authors: Wang, Xin, Geng, Peiliang, Zhang, Ying, Zhang, Maonian
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.04.2014
• Subjects: Age-related macular degeneration; Aged; Aged, 80 and over; alleles; Amino Acid Substitution; Asian Continental Ancestry Group - genetics; Case-Control Studies; complement; Complement Factor H - genetics; Complement factor H polymorphism; confidence interval; European Continental Ancestry Group - genetics; Genetic Association Studies; Genetic Predisposition to Disease; genotype; Humans; macular degeneration; Macular Degeneration - genetics; Meta-analysis; odds ratio; Polymorphism, Genetic; risk; Risk Factors; OR; CFH; Age-related macular degeneration; CI; Complement factor H polymorphism; HWE; AMD; PCR; Meta-analysis
• ISSN: 0378-1119; 1879-0038; 1879-0038
• DOI: 10.1016/j.gene.2014.01.032

An increasing body of studies has assessed the contribution of Val62Ile polymorphism to age-related macular degeneration (AMD) risk, but the exact association still remains uncertain. This meta-analysis was undertaken in order to further characterize the potential association between Val62Ile polymorphism and AMD risk in four different ethnic populations. A meta-analysis was performed using data available from 16 case–control studies evaluating correlation between the Val62Ile polymorphism and AMD in Caucasian, Chinese, Japanese and South Korean populations. Data extraction and study quality assessment were performed in duplicate. Summary odds ratios (ORs) and 95% confidence intervals (CIs) of allele contrast and genotype contrast were estimated using the random-effects model. The Q-statistic test was used to identify heterogeneity, and the funnel plot was adopted to evaluate publication bias. Sixteen studies involving a total of 11,400 subjects based on the search criteria were included in the meta-analysis. In overall populations, the Val62Ile polymorphism seemed to be associated with AMD (ORAA vs. GG=0.40, 95% CI=0.28–0.59; ORAA+GA vs. GG=0.72, 95% CI=0.64–0.80; ORAA vs. GC+GG=0.50, 95% CI=0.36–0.70; ORA vs. G=0.68, 95% CI=0.58–0.78; ORGA vs. GG=0.71, 95% CI=0.65–0.77). Similarly, subgroup analysis also revealed that this polymorphism was related to AMD in all ethnicities. This meta-analysis suggested that Val62Ile polymorphism was associated with susceptibility to AMD. •This is the largest study examining AMD risk related to CFH Val62Ile to date.•The current study further confirmed an association in Asians.•Our study provided novel evidence for protective effects on Caucasians.•Data on Chinese, Japanese and South Korean populations were detailed.