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Genetic Structure and Its Implications for Genetic Epidemiology: Aleutian Island Populations

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Genome Mapping and Genomics in Human and Non-Human Primates

Part of the book series: Genome Mapping and Genomics in Animals ((MAPPANIMAL,volume 5))

Abstract

Genome-wide association studies (GWAS) have become a popular approach for identifying genetic variants that influence variation in susceptibility to common, complex diseases. However, association findings from such studies may be biased due to population stratification, and several techniques have been used to adjust for its influences on genetic association studies. Therefore, given attention to genetic diversity across human populations, a combination of SNPs or STRs on autosomal chromosomes, mitochondrial DNA, and NRY chromosome markers should be utilized to determine whether genetic structure exists in the population of interest. In large cosmopolitan populations that reside in urban centers, it can be difficult to assess potential genetic discontinuity and the possible sources of social stratification. In contrast, island populations are geographically isolated as well as culturally defined with boundaries that are more easily circumscribed. This chapter examines the indigenous populations of the Aleutian Archipelago for the distribution of mtDNA and NRY genetic markers and their possible discontinuity resulting from their history and geography. Despite the forced relocation and transplantation of some Aleuts for commercial purposes by the Russians in the nineteenth century and World War II invasion by the Japanese, disease epidemics, and population disruption, their genetic structure has been maintained in the mitochondrial DNA sequences. This preservation of the ancient genetic structure is revealed by the high correlation between intermatch genetic distances based on mtDNA sequences and geographical distances. Yet, there is no statistically significant correlation between geography and genetic distances, based on NRY, nor between mtDNA sequences and NRY distances. The gene structure of the Aleutian Archipelago reflects the one-way gene flow from Russian and western European males to Aleut females. There is considerable asymmetry in the genetic substructure of the Aleutian Islands depending on which molecular markers are used to assess the genetic variability.

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Acknowledgments

I would like to thank the Aleut people who generously supported this study and provided hospitality and goodwill throughout the decade of research. The Aleut Corporation and the Aleutian/Pribilof Island Association and the tribal councils were instrumental in the success of this research. I thank Alice Petrovelli (tribal elder) and Liza Mack (graduate student in Anthropology at Idaho State University) for their assistance in the field. I am indebted to my former research assistants, Rohina Rubicz and Mark Zlojutro, who assisted me in the field and conducted most of the laboratory analyses. This research was supported by grants from the National Science Foundation: OPP-990590 and OPP-0327676.

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Authors and Affiliations

  1. Laboratory of Biological Anthropology, Department of Anthropology, University of Kansas, 1415 Jayhawk Blvd., Lawrence, KS, 66045, USA

    Michael H. Crawford

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  1. Michael H. Crawford
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Correspondence to Michael H. Crawford .

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Editors and Affiliations

  1. South Texas Diabetes and Obesity Institute, University of Texas Health Science Center at San Antonio, Edinburg, Texas, USA

    Ravindranath Duggirala

  2. South Texas Diabetes and Obesity Institute, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA

    Laura Almasy

  3. South Texas Diabetes and Obesity Institute, Brownsville, Texas, USA

    Sarah Williams-Blangero

  4. Faculty of Biomedical Sciences, Technology & Research, Sri Ramachandra University, Chennai, India

    Solomon F.D. Paul

  5. Bidhan Chandra Krishi Viswavidyalaya, Mohanpur, West Bengal, India

    Chittaranjan Kole

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Crawford, M.H. (2015). Genetic Structure and Its Implications for Genetic Epidemiology: Aleutian Island Populations. In: Duggirala, R., Almasy, L., Williams-Blangero, S., Paul, S., Kole, C. (eds) Genome Mapping and Genomics in Human and Non-Human Primates. Genome Mapping and Genomics in Animals, vol 5. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-46306-2_9

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