title: Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people.
abstract: 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.
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
authors.forename: Z L
authors.initials: ZL
authors.lastname: Luo
authors.affiliation: Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, Yunnan, China.
authors.forename: H
authors.initials: H
authors.lastname: Sun
authors.affiliation: Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, Yunnan, China.
authors.forename: Z Q
authors.initials: ZQ
authors.lastname: Yang
authors.affiliation: Department of Obstetrics and Gynecology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
authors.forename: Y H
authors.initials: YH
authors.lastname: Ma
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Gu
authors.affiliation: Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, Yunnan, China.
authors.forename: Y Q
authors.initials: YQ
authors.lastname: He
authors.affiliation: Department of Hepatobiliary Surgery, The Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
authors.forename: D
authors.initials: D
authors.lastname: Wei
authors.affiliation: Department of Hepatobiliary Surgery, The Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
authors.forename: L B
authors.initials: LB
authors.lastname: Xia
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
authors.forename: B H
authors.initials: BH
authors.lastname: Yang
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China luozhiling126@126.com.
authors.forename: T
authors.initials: T
authors.lastname: Guo
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D060850:LIM-Homeodomain Proteins / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors; C063843:insulin gene enhancer binding protein Isl-1