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luzhen huang, Yaoyao Sun, Chiea chuen Khor, Xiaoxin Li; Difference between Polypoidal Choroidal Vasculopathy and Age-Related Macular Degeneration in the hereditary contribution of three variants of the complement fctor H(CFH) in Chinese Han people. Invest. Ophthalmol. Vis. Sci. 2014;55(13):2226.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate whether three variants in complement factor H gene contributed differently in patients with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) of Chinese descent.
We performed a case-control study in a group of Chinese patients with nAMD (n=300) or PCV (n=300) and in an independent control group-300 cataract patients without age-related maculopathy. Association analysis of allele and genotype frequencies was performed for the following haplotype-tagging single nucleotide polymorphisms (htSNPs): rs800292, rs2274700 and rs1065489. Multinomial logistic regression analyses were performed to estimate and compare the effect of these three CFH polymorphisms on AMD and PCV, using the AA (wild-type) genotype as reference.
CFH rs2274700 and rs800292 were significantly associated with the risk of nAMD in our Chinese cohorts (P=3.4 10e-4, OR=0.64; P=2.3 10e-3, OR=0.69). Rs1065489 were found not associated with nAMD (P=0.14). All the three SNPs (rs2274700, rs800292 and rs1065489) were significantly associated with the risk of PCV (P=3.78 10e-7, OR=0.53; P=5.62 10e-8; P= 1.2 10e-4, OR=0.64, respectively). For rs800292 and rs1065489, the p-value of heterogeneity between the associations observed for nAMD and PCV were 0.065 and 0.099 respectively
This finding provides further insight into the underlying genetic character and biologic pathophysiology of the development of nAMD and PCV. We suggested although the complement pathway contributed to the development of nAMD and PCV, the different genetics effects of CFH combined with or without another genetic background may contribute to the maturation of the vessels to present different clinical pictures
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