ISL1 common variant rs1017 is not associated with susceptibility to congenital heart disease in a Chinese population.
ISL1 common variant rs1017 is not associated with susceptibility to congenital heart disease in a Chinese population.
复制标题
ISL1常见变异rs1017与中国人群先天性心脏病的易感性无关。
DOI：
10.1089/gtmb.2011.0249
复制
发表时间：
2012
影响因子：
1.4
通讯作者：
Yijiang Chen
中科院分区：
文献类型：
--
作者：
L. Xue;Xiaowei Wang;Jing Xu;Xiaohan Xu;Xiang Liu;Zhibin Hu;Hongbing Shen;Yijiang Chen
背景
ISL 1是LIM同源域转录因子家族的成员，在未分化的心脏祖细胞中表达，在心脏发生中起着关键作用。缺乏ISL 1表达导致生长停滞或显示心脏发育的严重缺陷，包括心房、心室以及流入道和流出道，这构成了先天性心脏病（CHD）的主要形式。最近，Stevens等人的一项重要研究发现，ISL 1的遗传变异与白色和黑人/非洲裔美国人人群中的CHD风险相关;这一观察结果使我们假设ISL 1常见变异可能影响中国人群中散发性CHD的易感性。
方法
我们在中国进行了一项冠心病病例对照研究，通过对1003例冠心病患者和1012例非冠心病对照者的ISL 1常见变异rs 1017进行基因分型来验证我们的假设。
结果
我们发现rs 1017与CHD的风险无关（p=0.213）。当我们根据受试者的年龄、性别和CHD分类进行分层分析时，我们发现不同亚组的风险总体上没有异质性。
结论
这是第一个研究表明，ISL 1常见变异rs 1017可能不发挥作用，在中国人群中散发冠心病的易感性。
BACKGROUND
ISL1, as a member of the LIM homeodomain transcription factor family, is expressed in a distinct population of undifferentiated cardiac progenitors and plays a pivotal role in cardiogenesis. Lacking ISL1 expression results in growth arrest or displays profound defects in heart development, including atria, ventricle, and the inflow and outflow tracts, which constitute a major form of congenital heart disease (CHD). Recently, an important study by Stevens et al. found that genetic variation in ISL1 is associated with risk of CHD in white and black/African American populations; this observation led us to hypothesize that ISL1 common variants might influence susceptibility to sporadic CHD in our Chinese population.
METHODS
We conducted a case-control study of CHD in Chinese to test our hypothesis by genotyping ISL1 common variant rs1017 in 1003 CHD cases and 1012 non-CHD controls.
RESULTS
We found that rs1017 was not associated with the risk of CHD (p=0.213). When we performed stratified analyses according to subjects' age, sex, and CHD classifications, we found no overall heterogeneity of risk in different subgroups.
CONCLUSIONS
This is the first study which indicates that ISL1 common variant rs1017 may not play a role in sporadic CHD susceptibility in the Chinese population.
影响因子：
15.9
作者：
Cohen, Ethan David;Wang, Zhishan;Morrisey, Edward E.
通讯作者：
Morrisey, Edward E.
影响因子：
2.7
作者：
Mjaatvedt, CH;Nakaoka, T;Markwald, RR
通讯作者：
Markwald, RR
圆锥动脉干心肌源自次级心区。
DOI：
10.1242/dev.128.16.3179
发表时间：
2001
期刊：
Development (Cambridge, England)
影响因子：
--
作者：
Waldo,KL;Kumiski,DH;Wallis,KT;Stadt,HA;Hutson,MR;Platt,DH;Kirby,ML
通讯作者：
Kirby,ML