title: [Association between two SNPs of ISL1 gene and congenital heart disease in children].
abstract: OBJECTIVE
  To investigate the association between 2 SNPs of ISL1 gene and congenital heart disease (CHD) in Tianjin Han children.
  
  
  METHODS
  Polymerase chain reaction and DNA sequencing were used to detect 2 SNPs at rs41268421 and rs1017 sites of ISL1 gene, including 35 CHD cases and 30 non-CHD controls. Differences of genotype and allele frequencies of rs41268421 and rs1017 sites were compared, and haplotype analysis of the two sites was performed.
  
  
  RESULTS
  Three genotypes (GG, GT and TT) were detected at ISL1 gene SNP rs41268421, and three genotypes (AA, AT and TT) were detected at SNP rs1017. At rs41268421, GT+TT genotypes and T allele frequencies in the CHD group were statistically higher than in the controls. The risk of CHD in children with T allele was significantly increased compared with children with G allele (OR=4.833). At rs1017, AT+TT genotypes and T allele frequencies in the CHD group were statistically higher than controls. The risk of CHD in children with T allele was greater compared with children with A allele (OR=4.491; P<0.05). Four kinds of haplotype were detected in the two SNPs sites and TT type increased the risk of CHD (OR=7.813).
  
  
  CONCLUSIONS
  Haplotype TT may increase the risk of CHD in Tianjin Han children.
authors.affiliation: Graduate School of Tianjin Medical University, Tianjin 300074, China. hongyanzhang@yahoo.com.
authors.forename: Shi-Yin
authors.initials: SY
authors.lastname: Mu
authors.forename: Hong-Yan
authors.initials: HY
authors.lastname: Zhang
mesh_terms: D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D060850:LIM-Homeodomain Proteins / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors; C063843:insulin gene enhancer binding protein Isl-1