Cresci Monica, Vecoli Cecilia, Foffa Ilenia, Pulignani Silvia, Ait-Ali Lamia, Andreassi Maria Grazia
National Research Council Institute of Clinical Physiology, via Aurelia Sud, 54100, Massa, Italy.
Pediatr Cardiol. 2013 Apr;34(4):938-41. doi: 10.1007/s00246-012-0578-z. Epub 2012 Nov 15.
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 ± 25.2]) and 500 healthy controls (272 men [age 15.7 ± 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.
先天性心脏病（CHD）是所有出生缺陷中最常见的，也是出生后第一年死亡的主要原因。大多数CHD的分子病因在很大程度上仍然未知。LIM同源结构域转录因子ISL1是未分化心脏祖细胞的标志物，这些祖细胞可产生右心室以及流入和流出道，而这些部位会受到多种心血管畸形的影响。关于ISL1 rs1017单核苷酸多态性在增加CHD风险中的作用，已有相互矛盾的研究结果报道。在本研究中，我们旨在调查ISL1 rs1017基因多态性是否会使白种人群易患CHD。在一项病例对照研究设计中，对309例CHD患者（197名男性[年龄21.3±25.2岁]）和500名健康对照者（272名男性[年龄15.7±21.3岁]）进行了ISL1 rs1017多态性基因分型。患者和对照者之间在基因型和变异等位基因分布上未发现显著差异。此外，ISL1 rs1017多态性与CHD风险总体上（p = 0.7）无关，按性别和CHD分类对人群进行分层分析时也无关。总之，ISL1常见变异rs1017与白种人群中CHD遗传风险增加无关。
