eXclusion: toward integrating the X chromosome in genome-wide association analyses

Abstract

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.

Figure 1

Percent of GWAS Papers with X Chromosome Analyses by Month Only 33% of papers on average analyzed the X chromosome (dashed line), and there is no discernible trend toward increased analysis. N is the number of papers published each month in the NHGRI GWAS Catalog.