A bias-ed assessment of the use of SNPs in human complex traits
A bias-ed assessment of the use of SNPs in human complex traits
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DOI：
10.1016/s0959-437x(02)00357-x
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发表时间：
2002-12-01
影响因子：
4
通讯作者：
Göring, HH
中科院分区：
文献类型：
--
作者：
Terwilliger, JD;Haghighi, F;Göring, HH
尽管在过去的十年中取得了许多生物技术进步，但在解开复杂性状的遗传组成方面取得的成功非常有限。大量投资的研究已经启动的基础上病因模型的不切实际的简单性和不良的实验设计下进行的数据集的规模不足，导致高估的影响大小的遗传变异和连锁不平衡（LD）的数量和质量。关于家庭或无关个体是否为基因定位提供更多力量的争论一直被错误地争论为连锁或LD是否是更可检测的相关性。虽然后一个问题可能会受到辩论，毫无疑问，以家庭为基础的分析是更强大的检测链接和/或LD。如果要有效利用生物技术的最新进展，就必须大大改进研究设计，因为迄今为止缺乏成功的原因更多地与生物学有关，而不是技术，过去几年的研究结果使这个问题变得越来越清楚。
Although many biotechnological advancements have been made in the past decade, there has been very limited success in unraveling the genetic component of complex traits. Heavily invested research has been initiated based on etiological models of unrealistic simplicity and conducted under poor experimental designs, on data sets of insufficient size, leading to an overestimation of the effect sizes of genetic variants and the quantity and quality of linkage disequilibrium (LD). Arguments about whether families or unrelated individuals provide more power for gene mapping have been erroneously debated as issues of whether linkage or LD are more detectable sorts of correlation. Although the latter issue may be subject to debate, there is no doubt that family-based analysis is more powerful for detecting linkage and/or LD. If the recent advances in biotechnology are to be exploited effectively, vastly improved study designs will be imperative, as the reasons for the lack of success to date have much more to do with biology than technology, an issue that has become increasingly clear with the findings of the past years.