Association between haplotype tagging single nucleotide polymorphisms of the ret proto-oncogene (RET) and hirschsprung disease in thais

Abstract

© 2015, Kasetsart University. All rights reserved. Hirschsprung disease (HSCR) is one of several considerably complex diseases. Several HSCR susceptibility loci have been reported through genome-wide association studies. However, haplotype tagging single nucleotide polymorphisms (htSNPs) of the ret proto-oncogene (RET) has been identified in the past as being associated with an increased risk for HSCR. This study genotyped 10 single nucleotide polymorphisms (SNPs) of the RET in 68 patients with HSCR and 120 controls using TaqMan SNP genotyping assays and restriction fragment length polymorphism. However, haplotype analysis of the RET was likewise associated with the disease which has been suggested to be more powerful than individual SNP analyses. The haplotype analysis was carried out using Haploview software. The results showed that htSNPs, located in the intron 1 of the RET, strongly associated with HSCR (odds ratio 3.64, 95% confidence interval 2.24–5.92, P < 0.0001). These findings suggested that RET plays a role in the pathogenesis of HSCR in the Thai population.