Kamatani Naoyuki
Center for Genomic Medicine (CGM), RIKEN, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Japan.
Nihon Shinkei Seishin Yakurigaku Zasshi. 2011 Aug;31(4):149-54.
The factors for the individual differences include both genetic and environmental factors. Genome-wide association study (GWAS) was first developed in RIKEN in 2002 and has now become a major research technology. In GWAS, the associations between genomic variations and the variations in the traits are analyzed by statistical genetics. As many as 100,000-2,500,000 polymorphic loci are distributed over the whole genome, and the associations between either genotypes or alleles and the phenotypes are analyzed. The phenotypes are either diseases, physical data or clinical laboratory data, and it was found that the targets of the available drugs are often included in the genes that were found to be associated with the diseases. These data indicate that the results from GWAS may be applied to the development of new drugs (GWDD; genome-wide drug discovery). GWAS started to influence pharmacogenomics in which the associations between genomic variations and drug reactions are studied. Genes associated with statin-induced severe muscle damage, efficacy of interferon for C-type hepatitis, ribavirin-induced hemolytic anemia and carbamazepine-induced severe skin eruption were found by GWAS. In 2010, "Guidelines for clinical studies and tests in which pharmacogenomics is applied" was released as a draft.
个体差异的因素包括遗传因素和环境因素。全基因组关联研究（GWAS）于2002年在日本理化学研究所首次开展，现已成为一项主要的研究技术。在GWAS中，通过统计遗传学分析基因组变异与性状变异之间的关联。全基因组分布着多达10万至250万个多态性位点，分析基因型或等位基因与表型之间的关联。表型可以是疾病、身体数据或临床实验室数据，并且发现现有药物的靶点通常包含在与疾病相关的基因中。这些数据表明，GWAS的结果可应用于新药开发（GWDD；全基因组药物发现）。GWAS开始影响药物基因组学，该领域研究基因组变异与药物反应之间的关联。通过GWAS发现了与他汀类药物引起的严重肌肉损伤、干扰素治疗丙型肝炎的疗效、利巴韦林引起的溶血性贫血以及卡马西平引起的严重皮疹相关的基因。2010年，作为草案发布了“应用药物基因组学的临床研究和试验指南”。
