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Chi Pui Pang, Ke Liu, Pancy Tam, Timothy Lai, Li Jia Chen; Differential associations of genes in the complement pathway with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Invest. Ophthalmol. Vis. Sci. 2014;55(13):2217.
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To investigate gene polymorphisms in the complement pathway (the C2-CFB-RDBP-SKIV2L locus, SERPING1, C3, C5 and C7) in neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV).
Haplotype-tagging SNPs in the 5 genetic loci were genotyped in a Hong Kong Chinese cohort of 200 neovascular AMD patients, 250 PCV patients and 300 control subjects, by using TagMan genotyping technology.
We found SKIV2L, but not C2/CFB, responsible for the global association of the C2-CFB-RDBP-SKIV2L locus with neovascular AMD. The association of SKIV2L rs429608 remained significant (P<0.001, OR=0.22) after adjusting for CFH rs800292 and HTRA1 rs11200638. No individual SNP or haplotype in this locus was associated with PCV. C3 rs17030 was associated with PCV (p<0.01, OR=2.94) but not AMD, and showed a male-specific association in PCV (p<0.05). No SNPs in C5 and C7 were associated with AMD or PCV. But significant SNP-SNP interactions were identified between C5 and C3 for neovascular AMD (C5-rs2269066 and C3-rs2230205, p<0.01) and for PCV (C5-rs2269066 and C3-rs2230205, p<0.01; C5-rs1548782 and C3-rs2250656, p<0.01). Also we found no SERPING1 SNPs associated with PCV or AMD in our Chinese cohort, but a meta-analysis revealed the association of rs2511989 with AMD in Caucasians.
Neovascular AMD and PCV in our Chinese cohort have consistently significant or insignificant associations with SERPING1, C5 and C7, but different association patterns on the C2-CFB-RDBP-SKIV2L locus and C3.
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