中国汉族女性中雌激素受体β单核苷酸多态性与冠状动脉粥样硬化性疾病的关系
Single nucleotide polymorphisms of ERβ and coronary atherosclerotic disease in Chinese Han women.
作者信息
Shen Chunyu, Chen Zhenglian, Mahmoodurrahman Mohammed, Chen Xinshan
机构信息
Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology Wuhan, China ; Department of Molecular Pharmacology and Physiology, University of South Florida Tampa, FL, USA.
Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology Wuhan, China.
出版信息
Int J Clin Exp Pathol. 2015 Feb 1;8(2):2044-50. eCollection 2015.
BACKGROUND
Growing evidence has shown that with the increase of age, the incidence of coronary atherosclerotic disease (CAD) in women increases to equal that of men. Several studies on the single nucleotide polymorphisms [SNPs] seem to provide evidence in support of the protective role estrogen receptor β (ERβ) has in reducing the risk of CAD.
OBJECTIVE
To determine the association of ERβ SNPs rs1256049 RsaI 1082 A > G and rs4986938 AluI 1730 G > A with coronary atherosclerotic disease in Chinese Han women.
METHODS
We designed a nested case-control research, in which 120 case women and 30 control women were selected from the Forensic Medicine Department of Tongji Medical College, HUST. We isolated DNA from their lung paraffin blocks, and then screened for these two SNPs for each DNA sample. Post-statistical analysis of their genotypes and haplotypes was used to figure out the targeted association.
RESULTS
We found no significant difference between the genotypes or haplotypes of the two SNPs and the risk of CAD. However, the rs4986938 heterozygote AG variant was correlated with a significantly lower risk for CAD than did homozygote GG variant in the group of less than 40 years old. Haplotype AA of the two SNPs was correlated with a higher risk for CAD in the same group.
CONCLUSION
The rs4986938 AluI 1730 G > A seems to be quite involved in the genetic basis of the disease and needs more attention in future studies. Meanwhile, this very association made between CAD and the mentioned SNP seems to be affected quite a bit by age.
背景
越来越多的证据表明，随着年龄的增长，女性冠状动脉粥样硬化性疾病（CAD）的发病率上升至与男性相当。几项关于单核苷酸多态性（SNP）的研究似乎为雌激素受体β（ERβ）在降低CAD风险方面的保护作用提供了证据。
目的
确定ERβ基因单核苷酸多态性rs1256049 RsaI 1082 A>G和rs4986938 AluI 1730 G>A与中国汉族女性冠状动脉粥样硬化性疾病的相关性。
方法
我们设计了一项巢式病例对照研究，从华中科技大学同济医学院法医学系选取120例病例女性和30例对照女性。从她们的肺石蜡块中提取DNA，然后对每个DNA样本筛查这两个SNP。对其基因型和单倍型进行统计分析以确定目标相关性。
结果
我们发现这两个SNP的基因型或单倍型与CAD风险之间无显著差异。然而，在年龄小于40岁的人群中，rs4986938杂合子AG变异与CAD风险显著低于纯合子GG变异相关。这两个SNP的单倍型AA在同组中与CAD风险较高相关。
结论
rs4986938 AluI 1730 G>A似乎在该疾病的遗传基础中起重要作用，在未来研究中需要更多关注。同时，CAD与上述SNP之间的这种关联似乎受年龄影响较大。
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