Li Meng, Wen Feng, Zuo Chengguo, Zhang Xiongze, Chen Hui, Huang Shizhou, Luo Guangwei
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Mol Vis. 2010 Feb 16;16:231-9.
To investigate whether common genetic variants in the complement component 1 inhibitor gene (serpin peptidase inhibitor, clade G, member 1, SERPING1) are associated with polypoidal choroidal vasculopathy (PCV) in a Chinese Han population.
DNA samples were obtained from 118 PCV patients and 115 healthy subjects. Data derived from the HapMap project were used to select tag single nucleotide polymorphisms (SNPs) across the extended SERPING1 region. A previously reported age-related macular degeneration-related risk factor (rs2511989) was forcibly included. Genotyping of each tag SNP was performed by PCR restriction fragment length polymorphism and direct DNA sequencing techniques.
Four SNPs for SERPING1, rs2509897, rs1005510, rs11603020, and rs2511989, were chosen as tag SNPs. None of these tag SNPs were associated with PCV, according to the single-SNP association test (p=0.41-0.83). Evaluation of common haplotypes across SERPING1 did not reveal any association with PCV (p=0.49-0.82).
We found no evidence to support the role of any common SERPING1 variants, including the rs2511989 variant, in the susceptibility to PCV in a Chinese Han population.
研究补体成分1抑制因子基因（丝氨酸蛋白酶抑制剂G家族成员1，SERPING1）的常见基因变异与中国汉族人群息肉样脉络膜血管病变（PCV）是否相关。
从118例PCV患者和115名健康受试者中获取DNA样本。利用国际人类基因组单体型图计划（HapMap计划）的数据，在SERPING1基因的延伸区域选择标签单核苷酸多态性（SNP）。强制纳入一个先前报道的与年龄相关性黄斑变性相关的危险因素（rs2511989）。通过聚合酶链反应-限制性片段长度多态性和直接DNA测序技术对每个标签SNP进行基因分型。
选择SERPING1基因的4个SNP，即rs2509897、rs1005510、rs11603020和rs2511989作为标签SNP。根据单SNP关联检验，这些标签SNP均与PCV无关（p=0.41-0.83）。对SERPING1基因常见单倍型的评估未发现与PCV有任何关联（p=0.49-0.82）。
我们没有发现任何证据支持包括rs2511989变异在内的SERPING1基因常见变异在中国汉族人群PCV易感性中起作用。
