Orr Nick, Chanock Stephen
Laboratory of Translation Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892.
Laboratory of Translation Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892; Core Genotyping Facility, Advanced Technology Center, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892.
Adv Genet. 2008;62:1-32. doi: 10.1016/S0065-2660(08)00601-9.
The landscape of human genetics has changed remarkably in a relatively short space of time. The field has progressed from comparatively small studies of rare genetic diseases to vast consortia based efforts that target the inherited components of common complex diseases and which typically involve thousands of individual samples. In particular, genome wide association studies have become possible as a result of a new generation of genotyping platforms. At the time of writing, these have led to the discovery of more than 150 novel susceptibility loci across a broad spectrum of diseases, a few in genes with high biological plausibility but the majority in others that had not been considered candidates. Here, we provide an overview of the field of complex disease genetics pertaining to mapping by association and consider the many pitfalls and caveats that have arisen.
在相对较短的时间内，人类遗传学领域发生了显著变化。该领域已从对罕见遗传病的相对小规模研究发展到基于大规模联盟的研究，这些研究针对常见复杂疾病的遗传成分，通常涉及数千个个体样本。特别是，由于新一代基因分型平台的出现，全基因组关联研究成为可能。在撰写本文时，这些研究已在广泛的疾病中发现了150多个新的易感基因座，其中一些位于具有较高生物学合理性的基因中，但大多数位于其他未被视为候选基因的基因中。在这里，我们概述了与关联图谱相关的复杂疾病遗传学领域，并考虑了出现的许多陷阱和注意事项。
