Complement factor I polymorphism is not associated with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a chinese population.

Abstract

PURPOSE:

To identify the associations of the two complement factor I (CFI) polymorphisms rs10033900 and rs2285714 with risk of neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a Chinese case-control study.

METHODS:

A total of 900 subjects - 300 controls, 300 cases with nAMD and 300 cases with PCV - were included in the present study. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of rs10033900 and rs2285714 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The differences in allele distribution between the cases and controls were tested by a χ(2) test with age and gender adjusted for by logistic regression analysis. We also performed a meta-analysis of the case-control studies of rs10033900 and rs2285714 based on the currently available evidence from the literature. The meta-analysis was conducted via an inverse-variance, fixed-effects model, as previously described.

RESULTS:

No statistically significant association was observed between the two polymorphisms of CFI and AMD risk, including nAMD, PCV and combined AMD (p > 0.05 for all comparisons). By meta-analysis, we detected significant associations between both of the SNPs and late AMD, which is consistent with previous results (odds ratio, OR, rs10033900 = 0.814, p rs10033900 < 0.001; OR rs2285714 = 1.221, p rs2285714 < 0.001). For rs2285714, the results of the meta-analysis were less reliable due to its heterogeneity.

CONCLUSIONS:

In our case-control study, neither of the two SNPs most studied (rs10033900 or rs2285714) in the CFI gene was a risk factor for developing nAMD or PCV in a Chinese population. Additional large, comprehensive and well-designed association studies are needed to better understand the role of ethnicity and other gene interactions in the association between the CFI gene and AMD.

• Authors: Fei Yang, Yaoyao Sun, Zhongtian Jin, Yong Cheng, Shanshan Li, Yujing Bai, Lvzhen Huang, Xiaoxin Li
• Journal: Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde (Ophthalmologica) Vol. 232 Issue 1 Pg. 37-45 ( 2014) ISSN: 1423-0267 [Electronic] Switzerland
• PMID: 24732209 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2014 S. Karger AG, Basel.

Chemical References

• Complement Factor I

Topics

• Adult
• Aged
• Aged, 80 and over
• Alleles
• Asian People (genetics)
• Case-Control Studies
• Choroidal Neovascularization (genetics)
• Complement Factor I (genetics)
• Female
• Fluorescein Angiography
• Genotype
• Humans
• Male
• Middle Aged
• Polymerase Chain Reaction
• Polymorphism, Single Nucleotide
• Polyps (genetics)
• Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
• Wet Macular Degeneration (genetics)