2005 Fiscal Year Final Research Report Summary
Analysis for molecular-pathogenesis of Hirschsprung disease. As a model of multifactorial disease
| Project/Area Number |
15590289
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | Asahikawa Medical College |
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Principal Investigator |
MAKITA Yoshio Asahikawa Medical College, School of Medicine, Pediatrics, Instructor, 医学部, 講師 (20271778)
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| Co-Investigator(Kenkyū-buntansha) |
MIYAMOTO Kazutoshi Asahikawa Medical College, School of Medicine, Surgery, Assistant, 医学部, 助手 (90209940)
HAYASHI Tokitsugi Asahikawa Medical College, School of Medicine, Pediatrics, Instructor, 医学部, 講師 (40322911)
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| Project Period (FY) |
2003 – 2005
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| Keywords | Hirschsprung disease / multifactorial disease / SNP / haplotype / case control study |
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| Research Abstract |
[Background] Rapid proceeding of human genome project, we got many knowledge for genetic defects of simple mendelian diseases. But simple mendelian diseases were rare diseases ; frequency was 1.25% of born infants. Now our interest goes toward common disease. Multifactorial disease occurs under influence of genetic basis and environmental status. Now we do not have a tool to understand these complicated phenomena. Simple scheme was necessary to understand multifactorial disease. Now we choose the Hirschsprung disease as model of multigenetic disease without environmental factors
[Subjects and method] Hirschsprung disease is a common digestive disease in young children. Evidence was 1/5000 and predominance in male. The disease has relatively high incidence and is genetic disease without environmental factors. Hirschsprung disease is a good candidate for simple multigenetic disease. To date, extensive mutational analysis of candidate genes of Hirsch sprung disease, only 50% of patients were identified disease causative mutation. We think this disease has occurred gene and gene interactions among candidate genes (EDN3,EDNRB, SOX10 and GDNF). We applied two-combined approach, RET gene mutational analysis and haplotype based case control study.
[Results] We found RET mutation in 5 cases (total 34 sporadic cases) and 1 familial case. Haplotype based case control study showed no relationship between specific haploype and disease.
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Research Products
(4 results)
