Association analysis between 2 SNPs of GLI1 gene and simple congenital heart defect / 中国实用内科杂志

ABSTRACT

Objective In the candidate region 12q13 of simple congenital heart defect(CHD),two single nucleotide polymorphisms(SNPs)in the coding-region of GLI1 gene,rs11553626 and rs2228226,were chosen to investigate their distribution in 180 simple CHD patients and 200 normal controls which were collected in the first affliated hospital,China Medical University and The General Hospital of Shenyang Military Area,in order to determine the relationship between GLI1 gene and simple CHD.Methods Genotypes of these two SNPs were analyzed in 180 simple CHD patients and 200 normal controls by Denatured High Performance Liquid Chromatography(DHPLC)and sequencing from Jan.2000 to Jun.2005.?~2 test was applied to analyze the genotype frequency and allele frequency between CHD groups and control groups.Results No polymorphisms were found at rs11553626 while G/C polymorphisms were found at rs2228226.Remarkable significance was observed at rs2228226 in the allele frequency distribution(?~2=8.956,P