复杂疾病病因研究中基因间交互作用分析：基于基因型传递不平衡的多因子降维法

Identification of gene-gene interactions related to the etiology of complex disease:a multifactor dimenstonality reduction-genotype pedigree disequilibrium test

【导读】介绍复杂疾病病因研究中分析基因-基因交互作用的一种新方法:基于基因型传递不平衡的多因子降维法(MDR-PDT)。文中简述MDR-PDT的基本原理、步骤及特点,并结合研究实例说明其应用过程。MDR-PDT是原始MDR的扩展,可用于多种结构类型的核心家系资料分析基因-基因交互作用。结论MDR-PDT具有非参数、无需遗传模式的特点,并能充分利用家系中多个家庭成员的信息,在复杂疾病病因研究中分析基因-基因交互作用具有良好的效能。

To introduce the application of a multifactor dimensionality reduction-genotype pedigree disequilibrium test （MDR-PDT） for detecting gene-gene interactions in the etiology of complex disease. A brief overview on the basic theory, implementing steps and features of MDR-PDT were described, and a practical research case was demonstrated to application of MDR-PDT in nuclear family studies. The MDR- PDT approach was the extension or development of conventional MDR method which could be used for detecting gene-gene interactions in families of diverse structure. Conclusion MDR-PDT was a new nonparametric and model-free method which might use additional family members in the nuclear families and had a good power to identify gene-gene interactions.