Luo Z L, Sun H, Yang Z Q, Ma Y H, Gu Y, He Y Q, Wei D, Xia L B, Yang B H, Guo T
Department of Cardiology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, Yunnan, China.
Genet Mol Res. 2014 Feb 28;13(1):1329-38. doi: 10.4238/2014.February.28.5.
Congenital heart disease (CHD) is the most common birth abnormality, but the etiology of CHD is unknown. ISL1 may play a fundamental role in cardiac morphogenesis, and mutations of this gene could cause CHD. To evaluate whether genetic variations of ISL1 are associated with CHD in Chinese Han people, polymerase chain reaction restriction fragment-length polymorphism and SNaPshot were used to examine 9 polymorphisms of ISL1 in 233 patients with CHD as well as 288 healthy controls. We found that one SNP (rs1017) in ISL1 was significantly associated with simple CHD. Genetic variation of ISL1 was confirmed to be associated with the risk of CHD. ISL1 is related to the atrial septal defect group and the ventricular septal defect group, and the genotypes were associated with the occurrence of CHD in the dominant mode of inheritance. We concluded that rs1017 contributed to the risk of CHD in Chinese Han people, and ISL1 may be involved in the formation and development of the heart.
先天性心脏病（CHD）是最常见的出生缺陷，但CHD的病因尚不清楚。ISL1可能在心脏形态发生中起重要作用，该基因的突变可能导致CHD。为了评估ISL1基因变异是否与中国汉族人群的CHD相关，采用聚合酶链反应-限制性片段长度多态性和SNaPshot技术检测了233例CHD患者和288例健康对照者中ISL1的9个多态性位点。我们发现ISL1中的一个单核苷酸多态性（SNP，rs1017）与单纯性CHD显著相关。证实ISL1基因变异与CHD风险相关。ISL1与房间隔缺损组和室间隔缺损组相关，其基因型以显性遗传方式与CHD的发生有关。我们得出结论，rs1017增加了中国汉族人群患CHD的风险，ISL1可能参与心脏的形成和发育。
