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European Journal of Human Genetics
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Ashkenazi Jewish mtDNA haplogroup distribution varies among distinct subpopulations: lessons of population substructure in a closed group

European Journal of Human Geneticsvolume 15, pages498–500 (2007)Cite this article

Abstract

The quest for genes associated with diseases is widely recognized as an essential task in the effort to investigate the genetic basis of complex human disorders and traits. A basic stage in association studies is the careful choice of the model population, with preference to closed groups having little population substructure. Here, we show evidence for significant geographic substructure (P=0.017) of the maternal lineage represented by mitochondrial DNA variation in one of the most commonly studied populations, the Ashkenazi Jews. Most of the substructure effect stems from differential representation of haplogroups K and H. Our results underline the essentiality of adjusting data of population genetic variation for substructure during the design of association studies, even in apparently closed populations.

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Acknowledgements

This research project was supported by research grants from the Israel Science Foundation and the Israel Ministry of Health (D.M.), a fellowship from the Israel Ministry of Absorption (J.F.) and a grant from the Russell Berrie Foundation and D-Cure, Diabetes Care in Israel (B.G.).

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Authors and Affiliations

  1. Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel

    Jeanette Feder, Ofer Ovadia & Dan Mishmar

  2. Department of Endocrinology, Hadassah-Hebrew University Medical School, Jerusalem, Israel

    Benjamin Glaser

Authors
  1. Jeanette Feder
  2. Ofer Ovadia
  3. Benjamin Glaser
  4. Dan Mishmar

Corresponding author

Correspondence toDan Mishmar.

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Feder, J., Ovadia, O., Glaser, B.et al. Ashkenazi Jewish mtDNA haplogroup distribution varies among distinct subpopulations: lessons of population substructure in a closed group.Eur J Hum Genet15, 498–500 (2007). https://doi.org/10.1038/sj.ejhg.5201764

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