Special Issue "Genetic Epidemiology"


A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601).

Deadline for manuscript submissions: closed (31 July 2014)

Special Issue Editors

Guest Editor
Dr. Catherine M. Stein
Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building, Room 1316, 2103 Cornell Rd., Cleveland, OH 44106, USA
Website: http://epbiwww.case.edu/index.php/people/faculty/70-stein
E-Mail: catherine.stein@case.edu

Guest Editor
Dr. Farren Briggs
School of Medicine, Case Western Reserve University, Wolstein Research Building, Room 1308, 2103 Cornell Rd., Cleveland, OH 44106, USA
E-Mail: farren.briggs@case.edu
Phone: +1 216 368 5636

Special Issue Information

Dear Colleagues,

The field of genetic epidemiology has grown rapidly over the last decade. Genetic epidemiology has advanced from targeted candidate gene studies and genome-wide linkage scans, to genome-wide association studies (GWAS), the identification of copy number variants (CNVs), and most recently, whole genome and whole exome sequencing studies (WGS/WES). Through these advances in technology and analytical approaches, many discoveries have been made concerning the identification of the genes that contribute to susceptibility to complex traits. Despite the great success in identifying the major genetic risk factors underlying many traits, there are still many undiscovered genetic risk factors. These unidentified factors pose the problem of "missing heritability".

Potential contributors to the missing heritability problem are environmental background and gene-environment interaction. While most genetic epidemiological studies have taken cutting edge approaches to the identification of risk genes (eg. GWAS and WGS/WES), fewer studies have examined environmental impacts. Environmental conditions may broadly include factors such as socio-economic status, diet, smoking, or even infectious disease exposure. Recent research suggests that the microbiome should also be considered in human genetic research. Since some of these factors may be considered modifiable risk factors, it is imperative to examine the environment in the context of genetic epidemiological studies.

In addition, new discoveries in genomic medicine may have effects on risk assessment, personalized medicine, and public health. For example, newborn screening programs are continuously being updated. The identification of disease-causing genetic variants within whole genome studies may have both clinical applications as well as ethical ramifications.

"Genetic epidemiology" researches human genetic risk factors in the context of environmental risk factors and public health in general.

Dr. Catherine M. Stein
Dr. Farren Briggs
Guest Editors


Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. Papers will be published continuously (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are refereed through a peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Environmental Research and Public Health is an international peer-reviewed Open Access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs).


  • Gene-environment interaction
  • Incidental findings
  • Public health genomics
  • Personalized medicine
  • Newborn screening
  • Return of results
  • Methods for gene-environment interaction
  • Geographic variation and genetic risk
  • Infectious diseases
  • Autoimmune diseases
  • Diet and genetics
  • Pharmacogenetics
  • Microbiome
  • Environmental exposures and genomics
  • Environmental DNA

Published Papers (2 papers)

by , , , , Jr., , , , , , , ,  and
Int. J. Environ. Res. Public Health 2014, 11(8), 8383-8398; doi:10.3390/ijerph110808383
Received: 1 August 2014; Accepted: 12 August 2014 / Published: 15 August 2014
Show/Hide Abstract | PDF Full-text (560 KB) | HTML Full-text | XML Full-text

by ,  and
Int. J. Environ. Res. Public Health 2014, 11(6), 6136-6146; doi:10.3390/ijerph110606136
Received: 25 March 2014; in revised form: 30 May 2014 / Accepted: 3 June 2014 / Published: 11 June 2014
Show/Hide Abstract | PDF Full-text (330 KB) | HTML Full-text | XML Full-text

Last update: 15 January 2014

Int. J. Environ. Res. Public Health EISSN 1660-4601 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert