The single nucleotide polymorphisms in Smad-interacting protein 1 gene contribute to its ectopic expression and susceptibility in Hirschsprung's disease.

[hirschsprung disease]

Hirschsprung 's disease (HSCR ) is the third most common congenital disorder of the gastrointestinal tract . It is an anomalous enteric nervous system (ENS ) characterized by the absence of ganglion cells in the myenteric and submucosal plexuses . It has been reported that the Smad-interacting protein 1 (SIP 1 ) is critical in embryonic development of ENS for its regulation on neural crest cells . In the present study , we analyzed 3 polymorphisms of the SIP 1 gene rs 41292293 (exon 5 ), rs 34961586 (exon 6 ) and rs 13017697 (exon 8 ) to determine their potential contributions to the susceptibility of HSCR . Allele frequencies and genotype distributions were analyzed by sequence analysis in 107 HSCR patients and 107 normal controls . The SIP 1 expression was carried out by using real-time PCR , western blot and immunohistochemistry . Polymorphic analysis indicated that the genotype distributions and allele frequencies in SIP 1 gene rs 41292293 , rs 34961586 and rs 13017697 were statistically different between HSCR and normal controls . The expression analysis revealed that SIP 1 was ectopically expressed in the aganglionic segments ; neither the mRNA nor the protein levels demonstrated that the difference compared with those was in the normal segments . In conclusion , the single nucleotide polymorphisms in SIP 1 gene rs 41292293 , rs 34961586 and rs 13017697 are associated with the ectopic expression of this gene in human HSCR and contribute to the susceptibility of this disease in population .

Diseases
Validation

Diseases presenting "the ectopic expression of this gene in human hscr" symptom

hirschsprung disease

You can validate or delete this automatically detected symptom