胆固醇酯转运蛋白（CETP）基因变异与年龄相关性黄斑变性易感性的关联。

Associations of cholesteryl ester transfer protein (CETP) gene variants with predisposition to age-related macular degeneration.

作者信息

Liutkeviciene Rasa, Vilkeviciute Alvita, Streleckiene Greta, Kriauciuniene Loresa, Chaleckis Romanas, Deltuva Vytenis Pranas

机构信息

Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2, Kaunas LT-50161, Lithuania; Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2, Kaunas LT-50161, Lithuania.

Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2, Kaunas LT-50161, Lithuania.

出版信息

Gene. 2017 Dec 15;636:30-35. doi: 10.1016/j.gene.2017.09.022. Epub 2017 Sep 14.

DOI:10.1016/j.gene.2017.09.022

PMID:28918250

Abstract

PURPOSE

To determine the frequency of the genotypes of single nucleotide polymorphisms (SNPs) in the gene encoding cholesteryl ester transfer protein (CETP) and their associations with age-related macular degeneration (AMD) in the Lithuanian population.

STUDY DESIGN

A total of 1264 subjects were examined: 251 patients with early AMD, 206 patients with exudative AMD, and 807 healthy controls.

METHODS

The genotyping of CETP (rs5882, rs708272, rs3764261, rs1800775, rs2303790) was carried out using the RT-PCR.

RESULTS

Binomial logistic regression analysis revealed that each copy of rs5882 allele A was associated with a 1.3-fold increased risk of exudative AMD (p=0.046). The G/A and A/A genotypes of the rs708272 polymorphism were associated with 1.5-fold and 1.7-fold increased risks of exudative AMD (p=0.049 and p=0.021, respectively). Combination of two genotypes (G/A+A/A) under the dominant model were associated with a 1.5-fold increased risk of exudative AMD (p=0.021). Analysis of rs708272 revealed that the G/A and A/A genotypes under the co-dominant model were associated with 1.5-fold and 1.7-fold increased risks of exudative AMD, respectively (OR=1.450, 95% CI=1.002-2.098; p=0.049 and OR=1.710, 95% CI=1.064-2.156; p=0.021, respectively). Both genotypes (G/A+A/A) under the dominant model were associated with the 1.5-fold increased risk of exudative AMD, as well (OR=1.514, 95% CI=1.064-2.156; p=0.021) and each additional copy A allele was associated with a 1.3-fold increased risk of exudative AMD (OR=1.316, 95% CI=1.051-1.646; p=0.016). The rs3764261 polymorphism was identified to be protective: the C/A genotype and the combination of two genotypes (C/A+A/A) were associated with 1.8-fold and 1.5-fold decreased risks of exudative AMD (p=0.001 and p=0.015, respectively).

CONCLUSION

Our study identified two polymorphisms with a higher risk of AMD development (rs5882 and rs708272) and a protective polymorphism for AMD (rs3764261).

摘要

目的

确定立陶宛人群中胆固醇酯转运蛋白（CETP）编码基因的单核苷酸多态性（SNP）基因型频率及其与年龄相关性黄斑变性（AMD）的关联。

研究设计

共检查了1264名受试者：251例早期AMD患者、206例渗出性AMD患者和807名健康对照者。

方法

采用逆转录聚合酶链反应（RT-PCR）对CETP（rs5882、rs708272、rs3764261、rs1800775、rs2303790）进行基因分型。

结果

二项式逻辑回归分析显示，rs5882等位基因A的每一个拷贝与渗出性AMD风险增加1.3倍相关（p = 0.046）。rs708272多态性的G/A和A/A基因型与渗出性AMD风险增加1.5倍和1.7倍相关（分别为p = 0.049和p = 0.021）。显性模型下两种基因型（G/A + A/A）的组合与渗出性AMD风险增加1.5倍相关（p = 0.021）。对rs708272的分析显示，共显性模型下的G/A和A/A基因型分别与渗出性AMD风险增加1.5倍和1.7倍相关（OR = 1.450，95%CI = 1.002 - 2.098；p = 0.049和OR = 1.710，95%CI = 1.064 - 2.156；p = 0.021）。显性模型下的两种基因型（G/A + A/A）也与渗出性AMD风险增加1.5倍相关（OR = 1.514，95%CI = 1.064 - 2.156；p = 0.021），A等位基因的每一个额外拷贝与渗出性AMD风险增加1.3倍相关（OR = 1.316，95%CI = 1.051 - 1.646；p = 0.016）。rs3764261多态性被确定具有保护作用：C/A基因型和两种基因型的组合（C/A + A/A）与渗出性AMD风险降低1.8倍和1.5倍相关（分别为p = 0.001和p = 0.015）。