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具有定量风险因素的常见寡基因疾病模拟。GAW9问题2:答案

Simulation of a common oligogenic disease with quantitative risk factors. GAW9 problem 2: the answers.

作者信息

MacCluer J W, Blangero J, Dyer T D, Kammerer C M

机构信息

Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX 78228-0147, USA.

出版信息

Genet Epidemiol. 1995;12(6):707-12. doi: 10.1002/gepi.1370120629.

Abstract

For Problem 2, simulated family data were provided for a common oligogenic disease that was defined by imposing a threshold, T, on a quantitative trait, Q1. Every individual with a value of Q1 > T (where T = 87.5) was defined as affected. Participants were told that three other quantitative traits (Q2, Q3, and Q4) and an environmental factor (EF) also were thought to be associated with the disease as intervening variables, and that 12 candidate loci (C1 - C12) were postulated to influence traits associated with the disease. The tasks for GAW9 were to characterize the genetic and environmental contribution to Q1 (and the disease), Q2, Q3, and Q4, and to localize any single genes that had detectable effects.

摘要

对于问题2,提供了模拟的家系数据,用于一种常见的寡基因疾病,该疾病通过对数量性状Q1设定阈值T来定义。每个Q1值大于T(其中T = 87.5)的个体被定义为患病。参与者被告知,另外三个数量性状(Q2、Q3和Q4)以及一个环境因素(EF)也被认为作为干预变量与该疾病相关,并且假定有12个候选基因座(C1 - C12)影响与该疾病相关的性状。GAW9的任务是描述基因和环境对Q1(以及该疾病)、Q2、Q3和Q4的贡献,并定位任何具有可检测效应的单个基因。

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