Step Kathryn, Leal Thiago Peixoto, Kamel Walaa A, Waldo Emily, Bardien Soraya, Mata Ignacio F
Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
South African Medical Research Council Centre for Tuberculosis Research, Stellenbosch University, Cape Town, South Africa.
Front Genet. 2025 Jul 30;16:1650259. doi: 10.3389/fgene.2025.1650259. eCollection 2025.
X chromosome-wide association studies (XWAS) have identified susceptibility variants for various neurodegenerative and neurodevelopmental diseases. The unique characteristics of the chromosome require more complex analytical approaches than standard genome-wide association studies. Over the past 2 decades, refined XWAS methods have better accounted for this biology. Given that many neurological diseases show sex-biased prevalence, XWAS offers a valuable framework for investigating sex-specific genetic contributions. This review summarizes published neurological XWAS ( = 10), highlighting methodological approaches. Despite the challenges of genetic analyses for the X chromosome, XWAS remains a key approach for studying its role in disease mechanisms.
X染色体全基因组关联研究（XWAS）已经确定了多种神经退行性疾病和神经发育疾病的易感性变异。与标准的全基因组关联研究相比，该染色体的独特特征需要更复杂的分析方法。在过去20年中，改进后的XWAS方法更好地考虑了这种生物学特性。鉴于许多神经系统疾病存在性别差异患病率，XWAS为研究性别特异性遗传贡献提供了一个有价值的框架。本综述总结了已发表的神经学XWAS（n = 10），突出了方法学途径。尽管对X染色体进行遗传分析存在挑战，但XWAS仍然是研究其在疾病机制中作用的关键方法。
