Abstract：
Genetic association studies have been very successful at elucidating the genetic background of many complex diseases/traits. However, the X-chromosome is often neglected in these studies because of technical difficulties and the fact that most tools only utilize genetic data from autosomes. In this review, we aim to provide an overview of different practical approaches that are followed to incorporate the X-chromosome in association analysis, such as Genome-Wide Association Studies and Expression Quantitative Trait Loci Analysis. In general, the choice of which test statistics is most appropriate will depend on three main criteria: (1) the underlying X-inactivation model, (2) if Hardy-Weinberg equilibrium holds and sex-specific allele frequencies are expected and (3) whether adjustment for confounding variables is required. All in all, it is recommended that a combination of different association tests should be used for the analysis of X-chromosome.
摘要：
遗传关联研究在阐明许多复杂疾病/性状的遗传背景方面非常成功。然而,在这些研究中,由于技术困难和大多数工具仅利用来自常染色体的遗传数据这一事实,X染色体经常被忽视.在这次审查中,我们的目标是提供不同的实用方法的概述，遵循纳入X染色体的关联分析，如全基因组关联研究和表达数量性状基因座分析。总的来说,选择哪种测试统计最合适将取决于三个主要标准：(1)基础X失活模型，（2）如果Hardy-Weinberg平衡成立并且预期性别特定的等位基因频率，以及（3）是否需要对混杂变量进行调整。总而言之，建议将不同的关联试验组合用于X染色体分析.
