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  会員専用

• ホーム
• 51巻11号
• 臨床神経, 51：973−974, 2011
• 51巻11号目次

＜シンポジウム13―4＞次世代シーケンサーによる神経疾患の解明

孤発性疾患の研究―パーキンソン病―

三井　純

東京大学医学部附属病院神経内科〔〒113―8655 東京都文京区本郷7―3―1〕

To identify susceptibility genes that account for the heritability seen for complex traits, genome-wide association studies (GWAS) employing common single nucleotide polymorphisms (SNPs) have been conducted. The theoretical framework for GWAS is the 'common disease-common variant hypothesis'. Although GWAS have successfully revealed numerous susceptibility genes for common diseases, they generally account for only a small proportion of estimated heritability. In contrast, the prominent role of rare variants in neurodegenerative disease is best highlighted by the recent discovery of the glucocerebrosidase gene (GBA) as a robust genetic risk factor for Parkinson disease. Emerging new technology of next-generation sequencer will be a promising tool which enables an efficient search for remaining disease-relevant alleles.
Full Text of this Article in Japanese PDF (150K)

(臨床神経, 51：973−974, 2011)
key words：次世代シーケンサー，パーキンソン病，ありふれた疾患・まれで多様な変異仮説

（受付日：2011年5月19日）