Population Structure Analyses Provide Insight into the Source Populations Underlying Rural Isolated Communities in Illinois

Authors

Amanda C. Owings, University of Illinois at Urbana-ChampaignFollow
Samuel Bonfim Fernandes, University of Illinois at Urbana-ChampaignFollow
Marcus O. Olatoye, University of Illinois at Urbana-ChampaignFollow
Amanda J. Fogleman, Southern Illinois University School of MedicineFollow
Whitney E. Zahnd, University of South Carolina, Columbia, SCFollow
Wiley D. Jenkins, Southern Illinois University School of Medicine, Springfield, ILFollow
Ripan S. Malhi, University of Illinois at Urbana–ChampaignFollow
Alexander E. Lipka, University of Illinois at Urbana-ChampaignFollow

Document Type

Open Access Preprint

Anticipated Volume

91

Anticipated Issue

1

Abstract

We have previously hypothesized that relatively small and isolated rural communities may experience founder effects, defined as the genetic ramifications of small population sizes at the time of a community’s establishment. To explore this, we used an Illumina Infinium Omni2.5Exome-8 chip to collect data from 157 individuals from four Illinois communities, three rural and one urban. Genetic diversity estimates of 999,259 autosomal markers suggested that the reduction in heterozygosity due to shared ancestry was approximately 0, indicating a randomly mating population. An eigenanalysis, which is similar to a principal component analysis but ran on a genetic coancestry matrix, conducted in the SNPRelate R package revealed that the majority of these individuals formed one cluster with a few putative outliers obscuring population variation. An additional eigenanalysis on the same markers in a combined data set including the 2,504 individuals in the 1000 Genomes database found that most of the 157 Illinois individuals clustered into one group in close proximity to individuals of European descent. A final eigenanalysis of the Illinois individuals with the 503 individuals of European descent (within the 1000 Genomes Project) revealed two clusters of individuals and likely two source populations; one British and one consisting of multiple European subpopulations. We therefore demonstrate the feasibility of examining genetic relatedness across Illinois populations and assessing the number of source populations using publicly available databases. When assessed, it becomes possible for population structure information to contribute to the understanding of genetic history in rural populations.

Recommended Citation

Owings, Amanda C.; Fernandes, Samuel Bonfim; Olatoye, Marcus O.; Fogleman, Amanda J.; Zahnd, Whitney E.; Jenkins, Wiley D.; Malhi, Ripan S.; and Lipka, Alexander E., "Population Structure Analyses Provide Insight into the Source Populations Underlying Rural Isolated Communities in Illinois" (2019). Human Biology Open Access Pre-Prints. 152.
https://digitalcommons.wayne.edu/humbiol_preprints/152