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Identification of a susceptibility gene responsible for amyotrophic lateral sclerosis by case-control study using SNPs

Research Project

Project/Area Number 13670634
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionNIIGATA UNIVERSITY

Principal Investigator

NAKANO Ryoichi  Niigata University, Medical Hospital, Lecturer, 医学部附属病院, 講師 (00262444)

Co-Investigator(Kenkyū-buntansha) KOBAYASHI Hisashi  Niigata University, Brain Research Institute, Assistant, 脳研究所, 助手 (30303168)
Project Period (FY) 2001 – 2002
Project Status Completed (Fiscal Year 2002)
Budget Amount *help
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2002: ¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 2001: ¥1,800,000 (Direct Cost: ¥1,800,000)
Keywordsamyotrophic lateral sclerosis / susceptibility gene / case-control study / genome analysis / マイクロサテライトマーカー
Research Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by a selective loss of upper and lower motor neurons in the brain and spinal cord. Approximately 10% of ALS cases are familial, and 15-20% of these familial cases involve mutations in the copper-zinc superoxide dismutase gene (SOD1). The gene causing the autosomal recessive form of juvenile ALS (ALS2) has also recently been identified. On the other hand, the genetic background of sporadic ALS (SALS), which may be a multifactorial disease, remains unknown. To find susceptibility loci of the SALS, we investigated a total of 109 unrelated Japanese patients with SALS and 110 controls. A genome-wide set of 811 microsatellite markers was used for genotyping. The average distance between microsatellite markers is 4.6cM.The genotyping data of the SALS and control groups were analyzed by the x^2test. For the loci showing low p values, we conducted detailed association studies using additional densely distributed. microsatellite markers. Among the 811 markers analyzed, we identified two loci with p values <0.001 on chromosomes 13 (p=0.00071) and 18 (p=0 : 00036), and seven loci with 0.001 <p values <0 : 01. From the detailed association studies, we identified three loci located within a 100-kbp region on the X chromosome with 0.001 <p values <0.05. The present study revealed possible SALS susceptibility loci. To further characterize these loci, analyses of independent data sets using much more densely distributed microsatellite markers are required

Report

(3 results)
  • 2002 Annual Research Report   Final Research Report Summary
  • 2001 Annual Research Report
  • Research Products

    (12 results)

All Other

All Publications (12 results)

  • [Publications] 中野亮一: "SOD1変異家族性ALSの臨床像"Brain Medical. 14. 11-17 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 望月葉子: "Cu/Zn superoxide dismutase(SOD1)遺伝子変異(H43R)をともなった家族性筋萎縮性側索硬化症の臨床病理像"臨床神経. 4. 491-495 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 中野亮一: "神経変性疾患の発症メカニズムと治療への展望;筋萎縮性側索硬化症(ALS)変異SOD1の解析を中心に"細胞工学. 20. 1508-1513 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Ryoichi Nakano: "Molecular Mechanism and Therapeutics of Amyotrophic Lateral Sclerosis"Elsevier Science (Amsterdam). 382 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Ryoichi Nakano: "Clinical features of familial amyotrophic lateral sclerosis associated with SOD1 mutation. (Japanese)"Brain Medical. 14. 11-17 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Ryoichi Nakano: "A survey of mechanisms and therapeutics of neurodegenerative disease ; amyotrophic lateral sclerosis Molecular mechanisms centering on analyses of mutant SOD1. (Japanese)"Cell Technology. 20. 1508-1512 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Ryoichi Nakano: "Intracytoplasmic inclusions with overexpressed mutant SOD1 gene"Molecular Mechanism and Therapeutics of Amyotrophic Lateral Sclerosis. Amsterdam : Elsevier Science. 41-47 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Yoko Mochizuki: "Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with, an H43R mutation in Cu/Zn superoxide dismutase. (Japanese)"Clinical Neurology. 43. 491-495 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 中野亮一: "SOD1変異家族性ALSの臨床像"Brain Medical. 14. 11-17 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 中野亮一: "神経変性疾患の発症メカニズムと治療への展望;筋萎縮性側索硬化症(ALS) 変異S0D1の解析を中心に"細胞工学. 20・11. 1508-1513 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 中野亮一: "S0D1変異家族性ALSの臨床像"Brain Medical. (印刷中). (2002)

    • Related Report
      2001 Annual Research Report
  • [Publications] Ryoichi Nakano et al.: "Molecular Mechanism and Therapeutics of Amyotrophic Lateral Sclerosis"Elsevier Science. 382 (2001)

    • Related Report
      2001 Annual Research Report

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Published: 2001-04-01   Modified: 2016-04-21  

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