Lack of Association of the 3'-UTR Polymorphism (rs1017) in the ISL1 Gene and Risk of Congenital Heart Disease in the White Population
Lack of Association of the 3'-UTR Polymorphism (rs1017) in the ISL1 Gene and Risk of Congenital Heart Disease in the White Population
复制标题
DOI：
10.1007/s00246-012-0578-z
复制
发表时间：
2013-04-01
影响因子：
1.6
通讯作者：
Andreassi, Maria Grazia
中科院分区：
文献类型：
--
作者：
Cresci, Monica;Vecoli, Cecilia;Andreassi, Maria Grazia
先天性心脏缺陷（CHD）是所有出生缺陷中最普遍的，也是生命第一年死亡的主要原因。大多数冠心病的分子原因仍然很大程度上未知。LIM同源结构域转录因子ISL 1是未分化的心脏祖细胞的标志物，其产生右心室以及流入道和流出道，其受到几种心血管畸形的影响。关于ISL 1 rs 1017单核苷酸多态性在增加冠心病风险中的作用，已有相互矛盾的研究结果报道。在这项研究中，我们的目的是调查是否ISL 1 rs 1017基因多态性赋予冠心病的易感性在白色人口。在一项病例对照研究设计中，对309名CHD患者（197名男性[年龄21.3 +/-A25.2]）和500名健康对照（272名男性[年龄15.7 +/-A21.3]）进行了ISL 1 rs 1017多态性基因分型。患者和对照组之间的基因型和变异等位基因分布无显著差异。此外，ISL 1 rs 1017多态性与CHD风险无关，无论是总体（p = 0.7）还是按性别和CHD分类对人群进行分层。总之，在白色人群中，ISL 1常见变异rs 1017与CHD遗传风险增加无关。
Congenital heart defects (CHDs) are the most prevalent of all birth defects and the leading cause of death in the first year of life. The molecular causes of most CHDs remain largely unknown. The LIM homeodomain transcriptor factor ISL1 is a marker for undifferentiated cardiac progenitor cells that give rise to both the right ventricle and the inflow and outflow tracts, which are affected by several cardiovascular malformations. Contradictory findings about the role of the ISL1 rs1017 single-nucleotide polymorphism in increasing the risk of CHD have been reported. In this study, we aimed to investigate whether the ISL1 rs1017 genetic polymorphism conferred susceptibility to CHD in the white population. In a case-control study design, 309 patients with CHD (197 men [age 21.3 +/- A 25.2]) and 500 healthy controls (272 men [age 15.7 +/- A 21.3]) were genotyped for the ISL1 rs1017 polymorphism. No significant difference in the genotype and variant allele distributions was found between patients and controls. In addition, the ISL1 rs1017 polymorphism was not associated with the risk of CHD neither overall (p = 0.7) nor stratifying the population by sex and CHD classification. In conclusion, ISL1 common variant rs1017 is not associated with increased genetic risk of CHD in the white population.