1998年1月
Association between the gene encoding the E2 subunit of the alpha-ketoglutarate dehydrogenase complex and Parkinson's disease
ANNALS OF NEUROLOGY
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- 巻
- 43
- 号
- 1
- 開始ページ
- 120
- 終了ページ
- 123
- 記述言語
- 英語
- 掲載種別
- DOI
- 10.1002/ana.410430121
- 出版者・発行元
- LIPPINCOTT WILLIAMS & WILKINS
Dihydrolipoamide succinyltransferase (E2, EC 2.3.1.61, chromosome 14q24.2-3) is a specific subunit of human alpha-ketoglutarate dehydrogenase complex. (KGDHC). A biallelic intragenic polymorphism was identified in E2 gene of KGDHC. It was a single nucleotide substitution between G (in allele 1) and A (in allele 2) at the position that does not change amino acid code. Using this intragenic polymorphism as a marker, we investigated the association between this gene and Parkinson's disease. Frequencies of the genotypes that carry allele 2 were significantly higher in the Parkinson's disease group than in the control group. The results indicated that a genetic variant of the E2 gene itself or in close proximity to the gene constitutes one of the genetic risk factors for Parkinson's disease.
- リンク情報
- ID情報
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- DOI : 10.1002/ana.410430121
- ISSN : 0364-5134
- Web of Science ID : WOS:000071504600017