对全基因组关联分析中一些问题思考.PDF

16(S):57-60 COM. on C. A. 4:e10, 2010 ª 现代人类学通讯 第四卷 2010 年 Communication on Contemporary Anthropology Vol. 4 专题综述 Several Problems Appearing in Genome-Wide Association Study PENG Qianqian MOE Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433 China ABSTRACT: The coming-forth of genome-wide association study had brought in new frontiers of complex disease association study, which was designed to discover all the disease loci. But along with the processing of genome-wide association study, the result of it was not as satisfying as researchers primarily expected. But the imperfect outcome of genome-wide association study was not only due to the methods applied to it, but there were also many other reasons. In this review, we focused on some problems encountered in genome-wide association study, including the argument among statistical interaction and biological interaction, the characteristics of genome-wide genotyping data and related methods developing, hypothesis of disease model and so on. The renewed learning and thinking on the genome-wide association study would give efficient supervision in the following study. Keywords: genome-wide association study; interaction; characteristics of data; model hypothesis   对全基因组关联分析中一些问题的思考 彭倩倩 复旦大学生命科学学院现代人类学教育部重点实验室 上海 200433 摘要：全基因组关联分析的出现，曾经令研究者们看到了复杂疾病致病机制研究的新契机——从全基因组分 型数据中寻找所有可能的致病位点。但是随着全基因组关联分析的逐步推进，其结果并没有研究者预期的那 么理想。全基因组关联分析的结果不理想，不仅仅是分析方法的问题。本文对全基因组关联分析中遇到的一 些问题，如交互作用的争议，全基因组分型数据的特征以及相关方法构建，疾病模型假设等方面进行了讨论。 对于全基因组关联分析的重新认识和思考对今后的工作将提供有力的指导。  关键字：全基因组关联分析；交互作用；数据特征；模型假设   全基因组关联分析的出现，曾经令研究 到的一些有关全基因组关联分析的问题做一 者们看到了复杂疾病致病机制研究的新契机 点总结探讨。 ——从全基因组分型数据中寻找所有可能的 1 揭秘交互作用的玄虚 致病位点，而不必逐个寻找候选基因然后用 1.1 交互作用在生物学领域的意义 定位方法确定[1-5] 。但是随着全基因组关联