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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
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C2 rs547154 polymorphism and polypoidal choroidal vasculopathy susceptibility: a meta-analysis
Xue Chen1, Xiaoli Kang2, Kanxing Zhao3
1Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, China.
Scientific Reports
|March 4, 2015
Summary
The C2 rs547154 polymorphism is associated with a reduced risk of developing polypoidal choroidal vasculopathy (PCV). This meta-analysis confirms a protective role for this genetic variant in PCV development.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Polypoidal choroidal vasculopathy (PCV) is a significant cause of vision loss.
- Previous studies on the association between the C2 rs547154 polymorphism and PCV risk have yielded conflicting results.
- A comprehensive meta-analysis is needed to clarify this relationship.
Purpose of the Study:
- To conduct a meta-analysis to precisely estimate the association between the C2 rs547154 polymorphism and the risk of developing PCV.
- To compare the allelic frequencies of the C2 rs547154 polymorphism between PCV and age-related macular degeneration (AMD) patients.
Main Methods:
- A meta-analysis was performed on 5 eligible studies, including a total of 4076 participants (1220 PCV cases, 1073 AMD cases, and 1783 controls).
- Odds ratios (OR) with 95% confidence intervals (CI) were calculated using a random-effect model to assess the association.
- Sensitivity analysis, subgroup analysis, and Egger's test for publication bias were employed.
Main Results:
- The pooled analysis revealed a significant protective association for the C2 rs547154 polymorphism in PCV development (Allele T vs G: OR=0.64, p<0.0001; Genotype TT+TG vs GG: OR=0.64, p=0.0002).
- No significant difference in allelic frequency was found between PCV and AMD groups (OR=0.86, p=0.32).
- Sensitivity and subgroup analyses confirmed the robustness and consistency of the findings, with no detected publication bias.
Conclusions:
- The C2 rs547154 polymorphism demonstrates a protective effect against the development of polypoidal choroidal vasculopathy.
- These findings contribute to a better understanding of the genetic factors involved in PCV pathogenesis.
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