Association analysis of the SOX10 polymorphism with Hirschsprung disease in the Han Chinese population.
BACKGROUND
Hirschsprung disease (HSCR, Online Mendelian Inheritance in Man 142623) is a typical developmental disorder of the enteric nervous system in which ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. SOX10 gene is involved in the normal development of the enteric nervous system. Heterozygous SOX10 mutations have been identified in patients with syndromic HSCR. However, no mutations have been reported to date to be associated to isolated HSCR patient. We thus sought to investigate whether mutations in the SOX10 are associated with isolated HSCR in the Chinese population.


METHODS
Polymerase chain reaction amplification and direct sequencing were used to screen 4 exons of the SOX10 gene for mutations and polymorphisms in 104 patients with sporadic HSCR and 96 ethnically matched controls in Han Chinese populations.


RESULTS
In this study, 4 single nucleotide polymorphisms (SNPs) were identified: SNP1: c.18C>T (GAC→GAT) in exon 2; SNP2: c.122G>T (GGC→GTC) in exon 2; SNP3: IVS2+10 (C→G) in intron 2; and SNP4: c.927T>C (CAT→CAC) in exon 4. SNP1 and SNP2 were novel described polymorphisms in the Chinese population. No SOX10 mutations were found in Han Chinese with isolated HSCR.


CONCLUSIONS
Our results revealed that there was no association between the 4 SNPs of the SOX10 gene and HSCR. This study showed that the SOX10 gene is unlikely to be a major HSCR gene in the Chinese Han population.
Institute of Cell Biology, Zhejiang University Medical School, Hangzhou 310058, China.
Zhi-Wen
ZW
Pan
Jintu
J
Lou
Chunfen
C
Luo
Linjun
L
Yu
Ji-Cheng
JC
Li
D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005006:Ethnicity / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D020641:Polymorphism, Single Nucleotide; D055757:SOXE Transcription Factors / Q000235:genetics*; D017422:Sequence Analysis, DNA
C527923:SOX10 protein, human; D055757:SOXE Transcription Factors