Yamamoto Ken
Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University.
Nihon Rinsho. 2009 Jun;67(6):1063-7.
Genome-wide association studies (GWAS) uncovered common variants associated with common diseases. As a result of GWAS, more than 300 replicated associations have now been reported for more than 70 common diseases and biological measurements. Although the causal variants still remain unclear in many cases, these genetic association data are now providing a way to understanding the etiology of disease as well as difficult path to better treatment and disease prevention. Because there also exist examples of rare variants influencing common diseases, DNA resequencing of many functionally relevant genes in comparatively large number of individuals will be required to identify causal variants which are not detected by GWAS using common variants as a genetic marker.
全基因组关联研究(GWAS)发现了与常见疾病相关的常见变异。作为GWAS的成果,目前已报道了针对70多种常见疾病和生物学指标的300多个重复关联。尽管在许多情况下因果变异仍不清楚,但这些遗传关联数据现在为理解疾病病因提供了一种方法,同时也为更好地治疗和预防疾病提供了一条艰难的途径。由于也存在影响常见疾病的罕见变异的例子,因此需要对相对大量个体的许多功能相关基因进行DNA重测序,以鉴定那些使用常见变异作为遗传标记的GWAS未能检测到的因果变异。