|
Genetic polymorphisms of the SOX10 gene in Thai patients withsporadic Hirschsprung disease |
|---|---|
| รหัสดีโอไอ | |
| Creator | 1. Karun Eadyow 2. Theerawut Phusantisampan 3. Wanwisa Maneechay 4. Surasak Sangkhathat |
| Title | Genetic polymorphisms of the SOX10 gene in Thai patients withsporadic Hirschsprung disease |
| Publisher | Research and Development Office, Prince of Songkla University |
| Publication Year | 2563 |
| Journal Title | Songklanakarin Journal of Science and Technology |
| Journal Vol. | 42 |
| Journal No. | 3 |
| Page no. | 596-601 |
| Keyword | Hirschsprung disease (HSCR), ganglion cells, single nucleotide polymorphisms (SNPs), SOX10, RET-protooncogene |
| URL Website | https://rdo.psu.ac.th/sjstweb/index.php |
| ISSN | 0125-3395 |
| Abstract | Hirschsprung disease (HSCR) is complex genetic disorder of the enteric nervous system (ENS) characterized by anabsence of ganglion cells in various parts of the intestine. The disease has a strong genetic association with RET-protooncogene(RET) and various genes involved in neural crest development. SOX10 is a transcriptional regulator whose expression is essentialin the development of the ENS. The association between single-nucleotide polymorphisms (SNPs) in SOX10, rs139883 andrs139884, and sporadic HSCR has not been reported. We evaluated the genetic associations between two SNPs in SOX10 andThai sporadic HSCR, using a case-control design. The study included 120 HSCR and 242 sex-matched controls whose DNA wasgenotyped using the RFLP (rs139883) and Taqman SNP genotyping (rs139884) methods. The study found minor allelefrequencies (MAF) at 0.25 and 0.24 for rs139883 (allele C) and rs139884 (allele A), respectively. Both SNPs complied with theHardy-Weinberg equilibrium and were further examined through disease association. The association analysis found that therisk-genotype of rs139883 (CC) was associated with HSCR (odds ratio [OR] 2.09; 95% confidence interval [CI] 1.07-4.08;P=0.03). When a subgroup analysis was performed, CC genotype of the rs139883 was significantly associated with HSCR onlyin females (OR 5.6; 95% CI 1.1-19.5; P=0.01). Moreover, the long segment disease group significantly harbored the riskgenotype at a higher frequency (28.6%) compared to the short HSCR (12.0%, P=0.02). In conclusion, the study suggests agenetic association between rs139883 in SOX10 and Thai-female HSCR. |
