Variance in disease risk: Rural populations and genetic diversity

W. D. Jenkins, A. E. Lipka, A. J. Fogleman, K. R. Delfino, R. S. Malhi, B. Hendricks, M. E. Cristescu

Research output: Contribution to journalArticlepeer-review


Over 19% of the US population resides in rural areas, where studies of disease risk and disease outcomes are difficult to assess due to smaller populations and lower incidence. While some studies suggest rural disparities for different chronic diseases, the data are inconsistent across geography and definitions of rurality. We reviewed the literature to examine if local variations in population genomic diversity may plausibly explain inconsistencies in estimating disease risk. Many rural communities were founded over 150 years ago by small groups of ethnically and ancestrally similar families. These have since endured relative geographical isolation, similar to groups in other industrialized nations, perhaps resulting in founder effects impacting local disease susceptibility. Studies in Europe and Asia have found that observably different phenotypes may appear in isolated communities within 100 years, and that genomic variation can significantly vary over small geographical scales. Epidemiological studies utilizing common "rural" definitions may miss significant disease differences due to assumptions of risk homogeneity and misinterpretation of administrative definitions of rurality. Local genomic heterogeneity should be an important aspect of chronic disease epidemiology in rural areas, and it is important to consider for designing studies and interpreting results, enabling a better understanding of the heritable components of complex diseases.

Original languageEnglish (US)
Pages (from-to)519-525
Number of pages7
Issue number7
StatePublished - May 18 2016


  • Founder effects
  • Population genomic diversity
  • Rural populations

ASJC Scopus subject areas

  • Biotechnology
  • Molecular Biology
  • Genetics


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