title: Effect of RET c.2307T>G Polymorphism on the Outcomes of Posterior Sagittal Neurectomy for Hirschsprung Disease Procedure in Indonesian Population.
abstract: We investigated the effect of RET c.2307T>G polymorphism on the outcomes of posterior sagittal neurectomy for Hirschsprung disease (PSNHD) procedure in Indonesia. Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of enteric ganglia along variable lengths of the intestine in neonates. The RET c.2307T>G polymorphism has been shown to be associated with HSCR. Many surgical techniques with some advantage and disadvantage were established for HSCR. We have conducted PSNHD in short-segment HSCR patients.Thirty-one nonsyndromic HSCR patients underwent PSNHD. The polymorphism was determined using PCR-RFLP in genomic DNA. The rate of enterocolitis and constipation outcomes following PSNHD were 6 (19%) and 4 (13%) patients, respectively. The RET c.2307T>G polymorphism did not influence either enterocolitis or constipation outcome following PSNHD at P value of 0.07 (OR = 0.28; 95% CI = 0.08-1.05) and 0.67 (OR = 0.58; 95% CI = 0.12-2.76), respectively. Our study suggested that RET c.2307T>G polymorphism may not affect outcomes of PSNHD procedure in Indonesia. Furthermore, a multicenter study with a larger sample size is necessary to clarify this result.
authors.affiliation: 1 Pediatric Surgery Division, Department of Surgery.
authors.lastname: Rochadi
authors.forename: Sophia Mubarika
authors.initials: SM
authors.lastname: Haryana
authors.forename: Ahmad Hamim
authors.initials: AH
authors.lastname: Sadewa
authors.lastname: Gunadi
mesh_terms: D000483:Alleles; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006627:Hirschsprung Disease / Q000235:genetics* / Q000601:surgery*; D006801:Humans; D007214:Indonesia; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D011795:Surveys and Questionnaires; D016896:Treatment Outcome
chemical_list: D005819:Genetic Markers; D051096:Proto-Oncogene Proteins c-ret
keywords: Constipation; Enterocolitis; Hirschsprung; Indonesian cases; Polymorphism; Posterior sagittal neurectomy