Department of Statistics, School of Mathematical Sciences, Heilongjiang University and Heilongjiang Provincial Key Laboratory of the Theory and Computation of Complex Systems, Harbin 150080, China.
Department of Statistics, School of Mathematical Sciences, Heilongjiang University and Heilongjiang Provincial Key Laboratory of the Theory and Computation of Complex Systems, Harbin 150080, China.
J Theor Biol. 2019 Apr 21;467:1-6. doi: 10.1016/j.jtbi.2019.01.014. Epub 2019 Jan 29.
Current genome-wide association analysis has identified a great number of rare and common variants associated with common complex traits, however, more effective approaches for detecting associations between rare and common variants with common diseases are still demanded. Approaches for detecting rare variant association analysis will compromise the power when detecting the effects of rare and common variants simultaneously. In this paper, we extend an existing method of testing for rare variant association based on affected sib pairs (TOW-sib) and propose a variable weight test for rare and common variants association based on affected sib pairs (abbreviated as VW-TOWsib). The VW-TOWsib can be used to achieve the purpose of detecting the association of rare and common variants with complex diseases. Simulation results in various scenarios show that our proposed method is more powerful than existing methods for detecting effects of rare and common variants. At the same time, the VW-TOWsib also performs well as a method for rare variant association analysis.
目前的全基因组关联分析已经确定了大量与常见复杂特征相关的罕见和常见变异，然而，仍然需要更有效的方法来检测罕见和常见变异与常见疾病之间的关联。同时检测罕见和常见变异的关联分析方法在检测罕见和常见变异的效果时会降低效能。在本文中，我们扩展了一种基于受影响同胞对（TOW-sib）的罕见变异关联检测的现有方法，并提出了一种基于受影响同胞对的罕见和常见变异关联的变权重检验（VW-TOWsib）。VW-TOWsib 可用于检测罕见和常见变异与复杂疾病的关联。在各种场景下的模拟结果表明，与现有方法相比，我们提出的方法在检测罕见和常见变异的效果方面更具威力。同时，VW-TOWsib 也可以作为一种罕见变异关联分析的方法。
