...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of genetics >Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction
【24h】

Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction

机译：常见的肌节基因多态性在左心功能不全遗传易感性中的作用

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Mutations in sarcomeric genes are common genetic cause of cardiomyopathies. An intronic 25-bp deletion in cardiac myosin binding protein C (MYBPC3) at 3 (') region is associated with dilated and hypertrophic cardiomyopathies in Southeast Asia. However, the frequency of sarcomeric gene polymorphisms and associated clinical presentation have not been established with left ventricular dysfunction (LVD). Therefore, the aim of the present study was to explore the association of MYBPC3 25-bp deletion, titin (TTN) 18 bp I/D , troponin T type 2 (TNNT2) 5 bp I/D and myospryn K2906N polymorphisms with LVD. This study includes 988 consecutive patients with angiographically confirmed coronary artery disease (CAD) and 300 healthy controls. Among the 988 CAD patients, 253 with reduced left ventricle ejection fraction (LVEF a parts per thousand currency sign 45%) were categorized as LVD. MYBPC3 25-bp deletion, TTN 18 bp I/D and TNNT2 5 bp I/D polymorphisms were determined by direct polymerase chain reaction method, while myospryn K2906N polymorphism by TaqMan assay. Our results showed that MYBPC3 25-bp deletion polymorphism was significantly associated with elevated risk of LVD (LVEF < 45) (healthy controls versus LVD: OR = 3.85, P < 0.001; and nonLVD versus LVD: OR = 1.65, P = 0.035), while TTN 18 bp I/D , TNNT2 5 bp I/D and myospryn K2906N polymorphisms did not show any significant association with LVD. The results also showed that MYBPC3 25-bp deletion polymorphism was significantly associated with other parameters of LV remodelling, i.e. LV dimensions (LV end diastole dimension, LVEDD: P = 0.037 and LV end systolic dimension, LVESD: P = 0.032). Our data suggests that MYBPC3 25-bp deletion may play significant role in conferring LVD as well as CAD risk in north Indian population.
机译：肌节基因的突变是心肌病的常见遗传原因。心肌肌球蛋白结合蛋白C（MYBPC3）在3（'）区的内含子25 bp缺失与东南亚地区扩张型和肥厚型心肌病有关。然而，尚未确定肌节基因多态性的频率和相关的临床表现与左心功能不全（LVD）。因此，本研究的目的是探讨MYBPC3 25 bp缺失，titin（TTN）18 bp I / D，肌钙蛋白T 2型（TNNT2）5 bp I / D和肌球蛋白K2906N多态性与LVD的关联。这项研究包括988例经血管造影证实为冠状动脉疾病（CAD）的患者和300例健康对照者。在988名CAD患者中，有253名左心室射血分数降低（LVEF为千分之一货币符号的45％）被归为LVD。通过直接聚合酶链反应法测定MYBPC3 25 bp缺失，TTN 18 bp I / D和TNNT2 5 bp I / D多态性，而Myospryn K2906N多态性通过TaqMan测定确定。我们的结果表明，MYBPC3 25 bp缺失多态性与LVD风险升高显着相关（LVEF <45）（健康对照组与LVD：OR = 3.85，P <0.001;非LVD与LVD：OR = 1.65，P = 0.035） ，而TTN 18 bp I / D，TNNT2 5 bp I / D和myospryn K2906N多态性与LVD没有显着相关性。结果还表明，MYBPC3 25 bp缺失多态性与LV重塑的其他参数（即LV尺寸（LV舒张末期尺寸，LVEDD：P = 0.037和LV收缩期尺寸，LVESD：P = 0.032））显着相关。我们的数据表明，MYBPC3 25 bp的缺失可能在赋予印度北部人群LVD和CAD风险中起重要作用。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号