National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.
Am J Hum Genet. 2013 May 2;92(5):643-7. doi: 10.1016/j.ajhg.2013.03.017.
The X chromosome lags behind autosomal chromosomes in genome-wide association study (GWAS) findings. Indeed, the X chromosome is commonly excluded from GWAS analyses despite being assayed on all current GWAS microarray platforms. This raises the question: why are so few hits reported on the X chromosome? This commentary aims to examine this question through review of the current X chromosome results in the National Human Genome Research Institute Catalog of Published Genome-Wide Association Studies (NHGRI GWAS Catalog). It will also investigate commonly cited reasons for exclusion of the X chromosome from GWAS and review the tools currently available for X chromosome analysis. It will conclude with recommendations for incorporating X chromosome analyses in future studies.
X 染色体在全基因组关联研究（GWAS）结果中落后于常染色体。事实上，尽管目前所有的 GWAS 微阵列平台都对 X 染色体进行了检测，但 X 染色体通常被排除在 GWAS 分析之外。这就提出了一个问题：为什么 X 染色体上报告的结果如此之少？本评论旨在通过审查国立人类基因组研究所发布的全基因组关联研究目录（NHGRI GWAS Catalog）中的当前 X 染色体结果来探讨这个问题。它还将调查排除 X 染色体进行 GWAS 的常见原因，并审查当前可用于 X 染色体分析的工具。最后将提出将 X 染色体分析纳入未来研究的建议。
