Trends in Population-Based Studies of Human Genetics in Infectious Diseases

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Jessica L. Rowell¹^*, Nicole F. Dowling¹, Wei Yu¹, Ajay Yesupriya¹, Lyna Zhang², Marta Gwinn³

1 Office of Public Health Genomics, Office of Epidemiology, Surveillance, and Laboratory Services, Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America, 2 National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention, Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America, 3 McKing Consulting Corporation, Atlanta, Georgia, United States of America

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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.

Citation: Rowell JL, Dowling NF, Yu W, Yesupriya A, Zhang L, et al. (2012) Trends in Population-Based Studies of Human Genetics in Infectious Diseases. PLoS ONE 7(2): e25431. doi:10.1371/journal.pone.0025431
Editor: Cameron Neylon, Science and Technology Facilities Council, United Kingdom

Received: March 25, 2011; Accepted: September 5, 2011; Published: February 7, 2012
This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication.
Funding: Jessica L Rowell is a fellow funded by Oak Ridge Institute for Science and Education (ORISE). The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
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.
* E-mail: jlrowel@emory.edu