Single Nucleotide Polymorphisms of SOX10 in Thai Patients with sporadic
Hirschsprung Disease
Karun Eadyow1, Theerawut Phusantisampan2, Wanwisa Maneechay3, Surasak Sangkhathat4
1
Department of Biomedical Sciences, Faculty of Medicine, Prince of Songkla University, Hat
Yai, Songkhla, Thailand 90110
Department of Biotechnology, Faculty of Applied Science, King Mongkut’s University of
Technology, North Bangkok, Bangkok, Thailand 10800
2
3
Central Research Laboratory, Faculty of Medicine, Prince of Songkla University, Hat Yai,
Songkla, Thailand 90110
4
Department of Surgery, Faculty of Medicine, Prince of Songkla University, Hat Yai,
Songkhla, Thailand 90110
*e-mail: karuneadyowbms54@gmail.com, e-mail: surasak.sa@psu.ac.th
Abstract
Hirschsprung disease (HSCR) is complex genetic disorder of the enteric nervous system
(ENS) characterized by an absence of ganglion cells in the varying parts of the intestine. The
disease has a strong genetic association with RET-protooncogene (RET) and various genes
involving in the neural crest development. SOX10 is a transcriptional regulator whose
expression is essential in development of the ENS, SOX10 protein physically interacts with
another transcriptional regulator, PAX3, to activate transcription of RET. Association
between single-nucleotide polymorphisms ( SNPs) in SOX10, rs139883 and rs139884, and
sporadic HSCR has not been reported. In this report, we evaluated genetic association
between 2 SNPs in SOX10 and Thai sporadic HSCR, using case-control design. The study
included 101 HSCR and 144 sex-matched controls, whose DNA were genotyped by RFLP
(rs139883) and Taqman SNP genotyping (rs139884) method. The study found minor allele
frequency (MAF) at 0.27 and 0.23 for the rs139883 (allele C) and rs139884 (allele A),
respectively. Only rs139883 complied the Hardy-Weinberg Equilibrium and was regarded in
the disease association analysis. The association analysis found that the risk-genotypes were
not significantly associated with the disease (p-value 0.59). However, when subgroup
analysis was performed, genotypes containing C allele in the rs139883 were significantly
associated with HSCR (p-value 0.01) at the odds ratio of 5.6 (95% confidence interval 1.119.5). Moreover, the long segment disease group significantly harbored risk-genotypes (70%
compared to 36.8%) (P-value < 0.01). In conclusion, the study suggested genetic association
between rs139883 in SOX10 and Thai-female HSCR.
Acknowledgements:
The study was supported by a grant from the Faculty of Medicine, Prince of Songkla
University. The author thanks all personnel in the pediatric surgery unit, Songklanagarind
Hospital for their participation in surgical specimen collection.
Keywords: Hirschsprung disease (HSCR), ganglion cells, single nucleotide polymorphisms
(SNPs)
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