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Haoyu Chen, Jianjuan Chen, Yunli Yang, Yuqian Zheng, Mingzhi Zhang, Chi Pui Pang; Association of CFH and HTRA1/ARMS2 Polymorphisms with Early Age-related Maculopathy in Chinese. Invest. Ophthalmol. Vis. Sci. 2012;53(14):3308.
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The polymorphisms of Complement Factor H (CFH) and Age-related Maculopathy Susceptibility 2 (ARMS2)/HtrA serine peptidase 1(HTRA1) have been reported to be associated with age-related macular degeneration (AMD). However, the genetics of early age-related maculopathy (ARM) less investigated and remains unclear. In the current study we investigated the association of CFH and ARMS2/HTRA1 polymorphisms with early ARM in a Chinese Han cohort.
The current study cohort contained 157 early ARM patients and 161 controls recruited in Nan’ao, an island in southern China. CFH single nucleotide polymorphisms (SNP) rs1061170, rs800292, rs3753394, rs3753396, rs1065489, rs2274700, rs2736911 and rs2672598, and ARMS2/HTRA1 SNPsrs10490924 and rs11200638 were genotyped using Taqman genotyping assays. Logistic regression implemented by the R statistical language was used for association analysis.
None of the 10 SNPs deviated from Hardy Weinberg Equilibrium (P > 0.05). For association with early ARM, none of the SNPs showed statistical significance in single SNP association analysis, with allele odds ratio ranging from 1.03 to 1.23 (P > 0.05). Neither haplotypes of CFH or HTRA1/ARMS2 were significantly associated with early ARM (P > 0.05).
The association of HTRA1/ARMS2 and CFH polymorphisms in early ARM was not detected in our cohort. The odds ratios close to 1 might indicate the effects of AMD-associated gene in early ARM could be much lower compared to those in AMD.
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