title: Variance in disease risk: rural populations and genetic diversity.
abstract: 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.
authors.affiliation: a Population Health Science Program, Southern Illinois University School of Medicine, 801 N. Rutledge St., Springfield, IL 62794-9664, USA.
authors.forename: W D
authors.initials: WD
authors.lastname: Jenkins
authors.affiliation: b Department of Crop Sciences, University of Illinois, W-201B Turner Hall, 1102 S Goodwin Ave., Urbana IL 61801, USA.
authors.forename: A E
authors.initials: AE
authors.lastname: Lipka
authors.affiliation: c Center for Clinical Research, Southern Illinois University School of Medicine, 801 N. Rutledge St., Springfield, IL 62794-9664, USA.
authors.forename: A J
authors.initials: AJ
authors.lastname: Fogleman
authors.affiliation: c Center for Clinical Research, Southern Illinois University School of Medicine, 801 N. Rutledge St., Springfield, IL 62794-9664, USA.
authors.forename: K R
authors.initials: KR
authors.lastname: Delfino
authors.affiliation: d Depts. of Anthropology & Animal Biology, Carl R. Woese Institute for Genomic Biology, University of Illinois Urbana-Champaign, 209F Davenport Hall, 607 Matthews Ave., Urbana, IL 61801, USA.
authors.forename: R S
authors.initials: RS
authors.lastname: Malhi
authors.affiliation: e Department of History, Southern Illinois University, 1000 Faner Drive, Rm 3374, Carbondale, IL 62901, USA.
authors.forename: B
authors.initials: B
authors.lastname: Hendricks
mesh_terms: D002908:Chronic Disease / Q000453:epidemiology*; D018703:Founder Effect; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D054624:Health Status Disparities; D006801:Humans; D009369:Neoplasms / Q000453:epidemiology / Q000208:ethnology; D012424:Rural Population / Q000706:statistics & numerical data*; D014481:United States / Q000453:epidemiology
keywords: diversité génomique des populations; effets fondateurs; founder effects; population genomic diversity; populations rurales; rural populations