Journal
BRIEFINGS IN FUNCTIONAL GENOMICS
Volume 21, Issue 3, Pages 143-158Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bfgp/elab039
Keywords
X chromosome; infectious diseases; GWAS
Funding
- European Society of Clinical Microbiology and Infectious Diseases
- Radboud Universitair Medical Centrum Hypatia Grant
- research programme ZonMw COVID-19
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The X chromosome plays a significant role in the genetic factors associated with infectious diseases, contributing to dysregulated pathways. It is important to consider the X chromosome in GWAS analysis and conduct sex-specific analyses.
Many infectious diseases in humans present with a sex bias. This bias arises from a combination of environmental factors, hormones and genetics. In this study, we review the contribution of the X chromosome to the genetic factor associated with infectious diseases. First, we give an overview of the X-linked genes that have been described in the context of infectious diseases and group them in four main pathways that seem to be dysregulated in infectious diseases: nuclear factor kappa-B, interleukin 2 and interferon gamma cascade, toll-like receptors and programmed death ligand 1. Then, we review the infectious disease associations in existing genome-wide association studies (GWAS) from the GWAS Catalog and the Pan-UK Biobank, describing the main associations and their possible implications for the disease. Finally, we highlight the importance of including the X chromosome in GWAS analysis and the importance of sex-specific analysis.
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