机构：[1]Department of Cardiology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China昆明医科大学附属第一医院[2]Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, Yunnan, China[3]Department of Obstetrics and Gynecology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China昆明医科大学附属第一医院[4]Department of Hepatobiliary Surgery, The Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China
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.
基金：
Yunnan Province Natural Science FoundationNatural Science Foundation of Yunnan Province [2009ZC102M]
第一作者机构：[1]Department of Cardiology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China
通讯作者：
推荐引用方式(GB/T 7714)：
Luo Z. L.,Sun H.,Yang Z. Q.,et al.Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people[J].GENETICS AND MOLECULAR RESEARCH.2014,13(1):1329-1338.doi:10.4238/2014.February.28.5.
APA：
Luo, Z. L.,Sun, H.,Yang, Z. Q.,Ma, Y. H.,Gu, Y....&Guo, T..(2014).Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people.GENETICS AND MOLECULAR RESEARCH,13,(1)
MLA：
Luo, Z. L.,et al."Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people".GENETICS AND MOLECULAR RESEARCH 13..1(2014):1329-1338
