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. 2010 Jan 10:16:1-6.

An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population

Fang Lu  1 , Peiquan Zhao, Yinchuan Fan, Shibo Tang, Jianbin Hu, Xiaoqi Liu, Xian Yang, Yiye Chen, Tao Li, Chuntao Lei, Jiyun Yang, Ying Lin, Shi Ma, Chunyong Li, Yi Shi, Zhenglin Yang
Affiliations

An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population

Fang Lu et al. Mol Vis. .

Abstract

Purpose: Single nucleotide polymorphisms (SNPs) in the complement component 1 inhibitor (SERPING1) gene have been shown to be significantly associated with age-related macular degeneration (AMD) in Caucasian populations. A replication study of an association between these SNPs and AMD in a Chinese population is reported in this study.

Methods: Six SNPs, including rs2511990, rs1005510, rs11546660, rs2511989, rs2511988, and rs4926 in SERPING1 were genotyped in a Han Chinese subject group using the SNaPshot method of ABI. This subject group was composed of 194 patients with choroidal neovascularization (CNV or wet) AMD, 78 patients with soft drusen, and 285 matched controls. P values of the SNPs were calculated using an additive model. Haplotype frequencies between cases and controls were compared by chi2 analysis. The haplotype analysis was performed using Haploview 4.0.

Results: None of the six SNPs showed significant association with AMD. None of the major haplotypes were observed to be significantly associated with AMD or choroidal neovascularization AMD (CNV) after a stringent Bonferroni correction.

Conclusions: We demonstrate that SNPs in SERPING1 are not significantly associated with AMD in the mainland Han Chinese population.

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