Trends in population-based studies of human genetics in infectious diseases - PubMed (original) (raw)

Jessica L Rowell et al. PLoS One. 2012.

Abstract

Pathogen genetics is already a mainstay of public health investigation and control efforts; now advances in technology make it possible to investigate the role of human genetic variation in the epidemiology of infectious diseases. To describe trends in this field, we analyzed articles that were published from 2001 through 2010 and indexed by the HuGE Navigator, a curated online database of PubMed abstracts in human genome epidemiology. We extracted the principal findings from all meta-analyses and genome-wide association studies (GWAS) with an infectious disease-related outcome. Finally, we compared the representation of diseases in HuGE Navigator with their contributions to morbidity worldwide. We identified 3,730 articles on infectious diseases, including 27 meta-analyses and 23 GWAS. The number published each year increased from 148 in 2001 to 543 in 2010 but remained a small fraction (about 7%) of all studies in human genome epidemiology. Most articles were by authors from developed countries, but the percentage by authors from resource-limited countries increased from 9% to 25% during the period studied. The most commonly studied diseases were HIV/AIDS, tuberculosis, hepatitis B infection, hepatitis C infection, sepsis, and malaria. As genomic research methods become more affordable and accessible, population-based research on infectious diseases will be able to examine the role of variation in human as well as pathogen genomes. This approach offers new opportunities for understanding infectious disease susceptibility, severity, treatment, control, and prevention.

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Conflict of interest statement

Competing Interests: M. Gwinn is a paid consultant to CDC via McKing Consulting Corporation. This does not alter the authors′ adherence to all the PLoS ONE policies on sharing data and materials, as detailed online in the guide for authors. M. Gwinn is also a member of the PLoS ONE Advisory Board and the PLoS Currents: Evidence for Genomic Tests Moderator Board.

Figures

Figure 1

Figure 1. Trend in publication of infectious disease-related articles in human genome epidemiology, 2001–2010.

Figure 2

Figure 2. Distribution of effect sizes for infectious disease-related GWAS as reported in the NHGRI Catalog, 2001–2010.

One outlying association with an OR of 27.1 (IL28B and HCV treatment; Tanaka 2009) is not shown.

Figure 3

Figure 3. Five countries with the largest numbers of infectious disease-related publications in human genome epidemiology (HuGE), 2001–2010.

Figure 4

Figure 4. Selected infectious and chronic diseases according to worldwide morbidity (disability-adjusted life-years, DALYs) and publication frequency in human genome epidemiology (HuGE), 2001–2010.

Solid black circles represent the six most frequently studied infectious diseases; open black circles represent three chronic diseases that are often part of the natural course of infection with HBV, HCV, or H. Pylori. Gray diamonds represent the four most frequently studied diseases overall. Gray squares represent the four diseases with the greatest morbidity worldwide; the fifth is HIV/AIDS, represented with a blue dot. ⊕

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