Association between Haplotype Tagging Single Nucleotide Polymorphisms of the ret proto-oncogene (RET) and Hirschsprung Disease in Thais

Authors

  • Theerawut Phusantisampan Department of Biotechnology, Faculty of Applied Science, King Mongkut’s University of Technology North Bangkok, Bangkok 10800, Thailand.
  • Surasak Sangkhathat Pediatric Surgery Unit and Tumor Biology Research Unit, Department of Surgery, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand.
  • Weeradej Meeinkuirt Mahidol University, Nakhon Sawan Campus, Nakhon Sawan 60130, Thailand.
  • Malinee Sriariyanun Department of Chemical and Process Engineering, Thai-German Graduate School of Engineering, King Mongkut’s University of Technology North Bangkok, Bangkok 10800, Thailand.

Keywords:

Hirschsprung disease, ret proto-oncogene (RET), single nucleotide polymorphisms, Haploview software, haplotype tagging single nucleotide polymorphisms

Abstract

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.

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Published

2015-02-28

How to Cite

Phusantisampan, Theerawut, Surasak Sangkhathat, Weeradej Meeinkuirt, and Malinee Sriariyanun. 2015. “Association Between Haplotype Tagging Single Nucleotide Polymorphisms of the Ret Proto-Oncogene (RET) and Hirschsprung Disease in Thais”. Agriculture and Natural Resources 49 (1). Bangkok, Thailand:103-10. https://li01.tci-thaijo.org/index.php/anres/article/view/243522.

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Section

Research Article