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Related Experiment Video

Updated: Dec 25, 2025

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

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Published on: July 14, 2016

Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis.

Qianqian Yu¹, Jing Zhu¹, Yong Yao¹

¹Department of Ophthalmology, Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi, Jiangsu, China.

Bioscience Reports

|March 28, 2020

Summary

This meta-analysis found that the complement factor I (CFI) gene rs10033900 polymorphism may decrease the risk of developing age-related macular degeneration (AMD). No association was found for the rs2285714 polymorphism.

Keywords:

age-related macular degeneration complement factor I meta-analysis polymorphism risk

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Area of Science:

Genetics
Ophthalmology
Molecular Biology

Background:

Age-related macular degeneration (AMD) is a leading cause of vision loss.
Complement factor I (CFI) gene polymorphisms have been inconsistently linked to AMD risk.
Previous studies show conflicting results regarding the association between CFI polymorphisms and AMD.

Purpose of the Study:

To conduct a meta-analysis evaluating the association between CFI gene polymorphisms (rs10033900 and rs2285714) and the risk of AMD.
To consolidate evidence from existing studies to clarify the role of these specific CFI polymorphisms in AMD development.

Main Methods:

A comprehensive literature search was performed in PubMed and other databases up to February 8, 2020.
Meta-analysis of 12 case-control studies (total AMD) and 11 studies (neovascular AMD/geographic atrophy) was conducted.
Odds ratios (OR) and 95% confidence intervals (CI) were calculated to assess the strength of associations.

Main Results:

The rs10033900 polymorphism (C-allele or CC genotype) showed a significantly decreased risk of AMD across various populations and study designs.
This protective association was observed in both overall AMD and specific subtypes, including neovascular AMD and geographic atrophy.
No significant association was found between the rs2285714 polymorphism and AMD risk.

Conclusions:

The CFI rs10033900 polymorphism is potentially associated with a reduced risk of developing age-related macular degeneration.
The CFI rs2285714 polymorphism does not appear to be associated with AMD risk.
Further research may elucidate the precise mechanisms underlying the protective role of CFI rs10033900 in AMD pathogenesis.