2002 Fiscal Year Final Research Report Summary
Identification of a susceptibility gene responsible for amyotrophic lateral sclerosis by case-control study using SNPs
| Project/Area Number |
13670634
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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 |
Neurology
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| Research Institution | NIIGATA UNIVERSITY |
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Principal Investigator |
NAKANO Ryoichi Niigata University, Medical Hospital, Lecturer, 医学部附属病院, 講師 (00262444)
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| Co-Investigator(Kenkyū-buntansha) |
KOBAYASHI Hisashi Niigata University, Brain Research Institute, Assistant, 脳研究所, 助手 (30303168)
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| Project Period (FY) |
2001 – 2002
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| Keywords | amyotrophic lateral sclerosis / susceptibility gene / case-control study / genome analysis |
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| 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
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