title: ISL1 common variant rs1017 is not associated with susceptibility to congenital heart disease in a Chinese population.
abstract: BACKGROUND
  ISL1, as a member of the LIM homeodomain transcription factor family, is expressed in a distinct population of undifferentiated cardiac progenitors and plays a pivotal role in cardiogenesis. Lacking ISL1 expression results in growth arrest or displays profound defects in heart development, including atria, ventricle, and the inflow and outflow tracts, which constitute a major form of congenital heart disease (CHD). Recently, an important study by Stevens et al. found that genetic variation in ISL1 is associated with risk of CHD in white and black/African American populations; this observation led us to hypothesize that ISL1 common variants might influence susceptibility to sporadic CHD in our Chinese population.
  
  
  METHODS
  We conducted a case-control study of CHD in Chinese to test our hypothesis by genotyping ISL1 common variant rs1017 in 1003 CHD cases and 1012 non-CHD controls.
  
  
  RESULTS
  We found that rs1017 was not associated with the risk of CHD (p=0.213). When we performed stratified analyses according to subjects' age, sex, and CHD classifications, we found no overall heterogeneity of risk in different subgroups.
  
  
  CONCLUSIONS
  This is the first study which indicates that ISL1 common variant rs1017 may not play a role in sporadic CHD susceptibility in the Chinese population.
authors.affiliation: Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Xue
authors.forename: Xiaowei
authors.initials: X
authors.lastname: Wang
authors.forename: Jing
authors.initials: J
authors.lastname: Xu
authors.forename: Xiaohan
authors.initials: X
authors.lastname: Xu
authors.forename: Xiang
authors.initials: X
authors.lastname: Liu
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.forename: Hongbing
authors.initials: H
authors.lastname: Shen
authors.forename: Yijiang
authors.initials: Y
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D060850:LIM-Homeodomain Proteins / Q000235:genetics*; D008297:Male; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors; C063843:insulin gene enhancer binding protein Isl-1