Paired-liked homeodomain transcription factor 2 gene polymorphism associated with interval defect congenital heart disease / 中华实用儿科临床杂志

ABSTRACT

Objective To investigate the correlation between heart development related genes paired-liked homeodomain transcription factor 2 (PITX2) and interval defect congenital heart disease (CHD).Methods To target the investigated single nucleotide polymorphisms (SNPs) by means of dbSNPs data base of National Center of Biotechnology Information(NCBI) website and online bioinformatics software,SNPper.To compared SNPs using 30 interval defect CHD patients and 30 healthy children as control group.Venous blood were collected to detect PITX2 DNA sequencing,then new SNPs were explored.Statistic differences of alleles and genotype frequency distribution between case group and control group were analyzed sequentially.Results Two SNPs in PITX2 genes were rs1051887 and rs28936409,rs1051887a substitution of cytosine for guanine at nucleotide 954,which suggested the conversion of glutamic acid into glutamine at amino acid residue 106;rs28936409a substitution of cytosine for guanine at nucleotide 910,which suggested the conversion of arginine into proline at amino acid residue 91.The selected 2 SNPs in the case group and control group showed no polymorphism results.In this research,a new polymorphism 304C ＞ G(Glu102Gln) in PITX2 gene was first identified.Frequencies of CG genetype in case group were higher than control group(x2 =8.531,P ＜0.05),and similar results were found in allelic frequencies(x2 =6.508,P ＜ 0.05).Accordingly,CG genetype increased the risk of interval defect CHD (CG genetype OR =2.833,95 ％ CI1.297-6.188).Moreover,data showed there was no significant difference in the genotype distribution of SNPs between the case group and control group via Hardy-Weinberg Testing(P ＜ O.05).Conclusions A new SNP 304C ＞ G(Glu102Gln) was found and the CG genetype of the new SNP (304C ＞ G) may increase the risk of interval defect CHD.