title: Effects of SEMA3 polymorphisms in Hirschsprung disease patients.
abstract: OBJECTIVE
  Recently, genetic markers within a locus on 7q21.11 containing the SEMA3A, SEMA3C, and SEMA3D genes were reported to be associated with Hirschsprung disease (HSCR). Here, we investigated three polymorphisms, rs1583147, rs12707682, and rs11766001, at this locus to determine their potential contributions to the susceptibility of Indonesian HSCR patients.
  
  
  METHODS
  Three variants were analyzed in 60 non-syndromic HSCR patients and 118 ethnicity-matched controls for association studies by genotyping.
  
  
  RESULTS
  The risk allele frequencies of SEMA3 rs12707682 (allele C) and rs1583147 (allele T) is higher in cases, 53 and 23 %, than in controls, at 42 and 13 %, respectively. However, these frequency differences were not statistically significant with p value of 0.06 and 0.023, respectively. These findings were consistent with transmission disequilibrium test results with p values of 0.041 and 0.11 for rs12707682 and rs1583147, respectively. Furthermore, the frequencies of SEMA3 rs11766001 risk allele in HSCR cases and controls were 1.7 and 0.8 %, respectively.
  
  
  CONCLUSIONS
  SEMA3 rs12707682 and rs1583147 variants are not common risk factors for HSCR in Indonesia. The rarity of the SEMA3 rs11766001 polymorphism in Indonesian population might be due to a founder effect.
authors.affiliation: Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Jl. Kesehatan No. 1, Yogyakarta, 55281, Indonesia. drgunadi@ugm.ac.id.
authors.identifier: http://orcid.org/0000-0002-4707-6526
authors.lastname: Gunadi
authors.affiliation: Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Jl. Kesehatan No. 1, Yogyakarta, 55281, Indonesia.
authors.forename: Akhmad
authors.initials: A
authors.lastname: Makhmudi
authors.affiliation: Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Jl. Kesehatan No. 1, Yogyakarta, 55281, Indonesia.
authors.forename: Nunik
authors.initials: N
authors.lastname: Agustriani
authors.affiliation: Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Jl. Kesehatan No. 1, Yogyakarta, 55281, Indonesia.
authors.lastname: Rochadi
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007214:Indonesia; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors; D040121:Semaphorin-3A / Q000235:genetics*
chemical_list: D040121:Semaphorin-3A
keywords: Founder; Hirschsprung disease; Indonesian cases; Polymorphisms; Semaphorin 3