风湿性心脏病易感基因多态性研究进展

中国临床药理学与治疗学 ›› 2013, Vol. 18 ›› Issue (10): 1186-1191.

风湿性心脏病易感基因多态性研究进展

张涛¹, 温纯洁¹, 沈冬亚¹, 周宏灏^1,2

¹重庆医科大学生命科学院,重庆 400016;
²中南大学湘雅医学院临床药理研究所, 长沙 410078, 湖南

收稿日期:2012-07-24 修回日期:2013-02-18 出版日期:2013-10-26 发布日期:2013-09-30
作者简介:张涛,女,硕士研究生,研究方向:临床药理学和遗传药理学。Tel: 0731-84805380 E-mail: 1203105341@qq.com;周宏灏,男,院士,研究方向:临床药理学和遗传药理学。Tel: 0731-84805380 E-mail: hhzhou2003@163.co
基金资助:
国家自然科学基金(81102511);重庆市自然科学基金(cstc2011jjA10004);中国博士后科学基金(2011M500669);重庆市博士后科研项目特别资助项目(渝xm201102007)

Research progress of susceptibility genes in rheumatic heart disease

ZHANG Tao¹, WEN Chun-jie¹, SHEN Dong-ya¹, ZHOU Hong-hao^1,2

¹School of Life Sciences, Chongqing Medical University,Chongqing 400016, Hunan,China;
²Institute of Clinical Pharmacology, Xiangya School of Medicine, Central South University, Changsha 410078, Hunan, China

Received:2012-07-24 Revised:2013-02-18 Online:2013-10-26 Published:2013-09-30

摘要/Abstract

摘要： 风湿性心脏病(Rheumatic heart disease,RHD)是一种A组溶血性链球菌感染引起的风湿热的后遗症,属于自身免疫性疾病,主要表现为瓣膜口狭窄或关闭不全。大约30%~45%的风湿热(Rheumatic fever,RF)患者会发展为风湿性心脏病,这就提示风湿性心脏病可能存在着个体易感性的差异。对RHD易感性的研究,有助于进一步探讨其发病的分子机制,为RHD的防治提供新的思路。随着人类基因组计划的迅速发展及新的分析技术问世,RHD遗传易感性研究有了很大的发展。目前已知多种遗传基因与人类RHD易感性有关联,例如白细胞抗原 (HLA)、肿瘤坏死因子 (TNF)等,某些易感基因与炎症反应及免疫系统相关,本文主要就近年来RHD遗传易感性的研究进展作一综述。

关键词: 风湿性心脏病, 遗传易感性, 基因多态性

Abstract: Rheumatic heart disease (RHD) is an autoimmune disease that results from valvular autoimmune response to group A streptococcal infection leading to severe valvular damage. About 30% to 45% of the rhemutic fever (RF) patients develop into RHD,suggestincg that genetic susceptibility playes important roles in the RHD development.An understanding of the mechanisms underlying host susceptibility can provide important insights into pathogenesis that in turn can inform new treatments.The development of the human genome provides conditions for the studies of RHD genetic susceptibility. There are some susceptibility genes have been found to be related to RHD, including human leukocyte antigen (HLA) and tumor necrosis factor (TNF),many of these genes are associated with the immune response and inflammatory process. This review summarizes the recent study of these related gene polymorphisms.

Key words: Rheumatic heart disease, Genetic predisposition, Gene polymorphism

中图分类号:

R541.2

张涛, 温纯洁, 沈冬亚, 周宏灏. 风湿性心脏病易感基因多态性研究进展[J]. 中国临床药理学与治疗学, 2013, 18(10): 1186-1191.

ZHANG Tao, WEN Chun-jie, SHEN Dong-ya, ZHOU Hong-hao. Research progress of susceptibility genes in rheumatic heart disease[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2013, 18(10): 1186-1191.

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