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Published on: July 14, 2016
Association between complementary factor H Y402H polymorphisms and age-related macular degeneration in Chinese:
Yan-Long Quan1, Ai-Yi Zhou, Zhao-Hui Feng
1Department of Ophthalmology, the Second Affiliated Hospital of Medical College of Xi'an Jiaotong University, Xi'an 710004, Shaanxi Province, China.
Insights
This study found a strong link between the CFH gene variant and age-related macular degeneration (AMD) in Chinese populations. The risk allele C significantly increases the likelihood of developing AMD.
Area of Science:
- Ophthalmology
- Genetics
- Population Health
Background:
- Age-related macular degeneration (AMD) is a primary cause of vision loss globally.
- Complement factor H (CFH) gene polymorphism is implicated in AMD development.
- The Y402H variant of CFH has been investigated for its role in AMD.
Purpose of the Study:
- To determine the association between the CFH Y402H variant and AMD in Chinese populations.
- To quantify the effect magnitude and potential mode of action of the CFH variant in AMD.
- To conduct a systematic review and meta-analysis of relevant case-control studies.
Main Methods:
- A meta-analysis of ten case-control studies involving 1538 participants with AMD.
- Duplicate data extraction and quality assessment.
- Fixed-effects models used for estimating odds ratios (ORs) and 95% confidence intervals (CIs).
- Heterogeneity assessed using the Q-statistic test and publication bias evaluated with funnel plots.
Main Results:
- A significant association was observed between CFH polymorphism and AMD in the Chinese population.
- Individuals with the risk allele C were 2.35 times more likely to develop AMD compared to those with the T allele.
- No evidence of publication bias was detected in the meta-analysis.
Conclusions:
- The meta-analysis confirms a strong association between CFH and AMD in Chinese individuals.
- Each copy of the C allele increases AMD odds by approximately 2.33-fold.
- Further research is needed on CFH polymorphism in diverse Chinese AMD subtypes and geographical regions.
Aim:
Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world and complement factor H (CFH) polymorphism has been found to associate with the AMD. To investigate whether the Y402H variant in CFH is associated with AMD in Chinese populations, a systematic review and meta-analysis were performed to estimate the magnitude of the gene effect and the possible mode of action.
Methods:
A meta-analysis was performed using data available from ten case-control studies assessing association between the CFH Y402H polymorphism and AMD in Chinese populations involving 1538 AMD. Data extraction and study quality assessment were performed in duplicate. Summary odds ratios (ORs) and 95% confidence intervals (CIs) an allele contrast and genotype contrast were estimated using fixed- effects models. The Q-statistic test was used to assess heterogeneity, and Funnel plot was used to evaluate publication bias.
Results:
Seven of ten case-control studies were neovascular AMD, and few studies came from west and north of China. There was strong evidence for association between CFH and AMD in Chinese population, with those having risk allele C 2.35 times more likely to have AMD than subjects with T allele. Evidence of publication bias was not observed in our meta-analysis.
Conclusion:
[corrected] This meta-analysis summarizes the strong evidence for an association between CFH and AMD in Chinese and indicates each C allele increasing the odds of AMD by 2.33-fold.But more evidences about the relation between CFH polymorphism and different type of Chinese AMD from various district were needed.

