Rinsho Shinkeigaku (Clinical Neurology)

Symposium 13

Genetics of sporadic disease: insights from high-throughput sequencing-Parkinson disease-

Jun Mitsui, M.D.

Department of Neurology, The University of Tokyo

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)

(CLINICA NEUROL, 51: 973|974, 2011)
key words: Next-generation sequencer, Parkinson disease, Common disease-multiple rare variant hypothesis

(Received: 19-May-11)