信賴區間與模擬研究-對於穩定表現型的遺傳解釋比例

Abstract

在生物學上，穩定表現型(endophenotype)和疾病有著相同的遺傳路徑，但穩定表現型卻比診斷上的表現型(phenotype)更為接近其相關的基因，這也顯示穩定表現型在複雜疾病上基因研究的重要性，在這篇報告裡，針對一個由穩定表現型所發展的指標，即穩定表現型的遺傳解釋比例，我們透過模擬提供其相關意義，同時，我們也提供此指標的信賴區間，藉此執行統計檢定和統計推論，除外，透過信賴區間和模擬的結果，建構一些準則，以幫助我們找尋有用的穩定表現型。

Endophenotypes, which involve the same biological pathways as diseases but presumably are closer to the relevant gene action than diagnostic phenotypes, have emerged as an important concept in the genetic studies of complex diseases. In this report, we give some patterns about the developed index, the proportion of heritability explained (PHE) by the endophenotypes for validating endophenotypes. Besides, we provide a relevant confidence interval of PHE to perform a statistical test and to make some statistical inference. Using the relevant confidence interval of PHE, we construct some criteria to help us search a useful endophenotype.