Abstract:Objective：To analyze the relationship between polymorphisms of EDNRB gene and Hubei provincial patients of Han ethnicity with sporadic Hirschsprung disease(sHD). Methods：Peripheral blood samples from 104 patients with sHD and 84 parents of 42 patients, and 120 normal children(as controls) were collected. PCR-SSCP and direct DNA sequencing were used to detect mutations and polymorphisms of exon-4 in EDNRB gene. The differences of allele frequencies and genotype distribution in polymorphic sites were further analyzed between the three groups. Allele frequencies of SNPs in forty-two sHD trios were analyzed by transmission disequilibrium test(TDT), and the association between phenotype of HD and SNPs was analyzed. Results：No mutant site was detected and one polymorphic site of c831 G→A(L277L) was observed in Hubei provincial patients of Han ethnicity with sHD. The allele frequency of A(68% vs 53%) and genotype frequency of AA(49% vs 30%) were significantly higher in sHD group than that in control group(P<0.01); the allele frequency of A in sHD group was significantly higher than that in parental group(68% vs 54%,P<0.01); The allele frequency of A in SSA group was significantly higher than that in LSA group(76% vs 63%,P<0.05). No transmission disequilibrium was detected in polymorphic site of c831 G→A(L277L) between parental generation and filial generation. Conclusions：The polymorphisms of EDNRB gene may play an important role in the pathogenesis of sporadic Hirschsprung disease, especially for patient with short-segment aganglionosis.