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.