合併親子三元體資料標識基因下傳/不下傳訊息與相似度訊息之相關分析方法

Abstract

以家庭為基礎的相關研究中，傳遞不平衡檢定是最常使用的方法之一。在一組病體-親本三元體家庭中，傳遞不平衡檢定透過異質型的親本萃取一個特定標識對偶基因之下傳/不下傳訊息，建構以家庭為基礎的病體-對照設計，這樣的訊息雖然對標識基因與疾病基因間相關性提供部分資訊，但是對於三元體家庭資料而言，它並非唯一的相關訊息。根據這個想法，在本論文中將提出另一種相關訊息-相似度於檢定過程中，我們使用已知的方法將下傳/不下傳訊息與相似度訊息予以合併，並建構兩個新的相關檢定。在某些情況下，模擬研究顯示我們的方法表現較傳遞不平衡檢定好。

The transmission/disequilibrium test (TDT) is one of the most popularly used methods in family-based association studies. Based on a set of case-parent triad families, the TDT extracts information of transmission and nontransmission (TNT) of a particular marker allele from heterozygous parents to create a family-based case control design. Such a type information though does provide some information for association between a maker and a disease, it may not the only resource of association information contained in the triad families. According to this idea in this thesis we thus introduce another association information, the similarity into the testing procedure. We use the existing combination methods to combine information of the TNT and similarity to obtain two new association tests. Simulation studies show that our methods outperform the TDT in some situations.