上海交通大学学报（医学版）

上海交通大学学报（医学版）

• 论著（临床研究） • 上一篇    下一篇

补体成分2基因上rs9332739与年龄相关性黄斑变性的相关性研究

宋颖，张琳   

  1. 上海交通大学  医学院附属仁济医院眼科，上海 200127
  • 出版日期:2016-03-28 发布日期:2017-06-02
  • 通讯作者: 张琳, 电子信箱: linlinrj172@hotmail.com。
  • 作者简介:宋颖（1979—）， 女， 主治医师， 硕士; 电子信箱: lucyoosy@hotmail.com。

Study on the correlation between rs9332739 in complement component 2 gene and agerelated macular degeneration

SONG Ying, ZHANG Lin   

  1. Department of Ophthalmology， Renji Hospital， Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
  • Online:2016-03-28 Published:2017-06-02

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摘要：

目的 探讨补体成分2 (C2) 基因上单核苷酸多态性 (SNP) rs9332739与晚期年龄相关性黄斑变性 (AMD) 的相关性。方法 研究对象为上海地区204名晚期AMD患者和352名健康对照组人群,采集静脉血样并用标准酚氯仿法提取DNA；选取补体成分2 (C2) 基因上SNP rs9332739, 采用TaqMan基因分型技术进行该SNP位点基因分型；应用Fisher精确检验、卡方检验和logistic回归检验，分析rs9332739与晚期AMD的相关性。结果 SNP rs9332739的次要等位基因C,在晚期AMD组与对照组比较的比值比(OR)为1.61，P=0.55，无统计学意义；rs9332739基因型（CG/GG/CC）在加性模型和显性模型中，经年龄以及性别校正后，P=0.89，无统计学意义；rs9332739三种基因型在晚期AMD两种表现型干性AMD和湿性AMD的比较中，没有统计学上的显著性差异(P=0.51)。结论 C2基因上SNP位点rs9332739的次要型等位基因C不是中国汉族人群晚期AMD发病的危险因素，基因型与AMD的发病无明显相关性；rs9332739在中国汉族人群中可能不是晚期AMD的主要遗传标记物，需要更大样本量做进一步验证研究。

关键词: 年龄相关性黄斑变性, 补体成分2, 单核甘酸多态性, 关联研究

Abstract:

Objective To investigate the correlation between single nucleotide polymorphism (SNP) rs9332739 in complement component 2 (C2) gene and advanced age-related macular degeneration (AMD). Methods 204 advanced AMD patients and 352 healthy controls in Shanghai were enrolled. Venous blood samples were collected and DNA was extracted using standard phenol-chloroform method. Genotypes on SNP rs9332739 in C2 gene in advanced AMD patients and controls were determined using TaqMan SNP genotyping assay. Fishers exact test, χ2 test and logistic regression test were used to analyze correlation between rs9332739 and advanced AMD. Results Compared with the control group, minor allele C on SNP rs9332739 in the advanced AMD group had an OR of 1.61 and P of 0.55, which had no statistical significance. P value of rs9332739 genotypes (CG/GG/CC) was 0.89 in additive and dominant models after adjusted for age and sex and had no statistical significance. The differences in three rs9332739 genotypes between two phenotype in advanced AMD, namely dry AMD and wet AMD, were not statistically significant (P=0.51). Conclusion The minor allele C on SNP rs9332739 in C2 gene is not a risk factor for the incidence of advance AMD in Chinese Han population. Genotype is not significantly associated with the incidence of AMD. rs9332739 may not be a major genetic marker in advance AMD. More samples are needed for further validation and investigation.

Key words: macular degeneration, complement component 2, single nucleotide polymorphism, association study