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Ke Liu, Li Jia Chen, Pancy O.S. Tam, Chi Pui Pang; Associations of C3 with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6182.
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To investigate the associations of common single nucleotide polymorphisms (SNPs) in the complement factor 3 (C3) gene with neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV).
708 unrelated study subjects were included, consisting of 200 neovascular AMD, 233 PCV and 275 controls. Eight tag SNPs in C3 were selected from HapMap project database for Han Chinese. Genotyping of each tag SNP was performed by TaqMan genotyping assays (Applied Biosystems [ABI], Foster City, CA).
None of the eight tag SNPs or the haplotypes showed significant association with neovascular AMD or PCV. A significant interaction between a SNP and gender was identified in PCV. After stratified by gender, a risk effect of the minor allele of the SNP (p = 0.01, OR = 1.56) was observed in male PCV. A haplotype consist of the major allele of the SNP showed a significant protection for PCV (p = 0.01, OR = 0.64). The C3 SNPs or haplotypes were not associated with PCV in female. Besides, no SNPs or haplotypes were associated with neovascular AMD in either male or female.
Our results show significant association of a tag SNP in C3 with PCV in male but not in female, suggesting a gender-specific effect of C3 in PCV.
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