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Complex trait susceptibilities and population diversity in a sample of 4,145 Russians

Author

Listed:
  • Dmitrii Usoltsev

    (Almazov National Medical Research Centre
    ITMO University
    Broad Institute
    Nationwide Children’s Hospital)

  • Nikita Kolosov

    (Almazov National Medical Research Centre
    ITMO University
    Broad Institute
    Nationwide Children’s Hospital)

  • Oxana Rotar

    (Almazov National Medical Research Centre)

  • Alexander Loboda

    (Almazov National Medical Research Centre
    ITMO University
    Broad Institute)

  • Maria Boyarinova

    (Almazov National Medical Research Centre)

  • Ekaterina Moguchaya

    (Almazov National Medical Research Centre)

  • Ekaterina Kolesova

    (Almazov National Medical Research Centre)

  • Anastasia Erina

    (Almazov National Medical Research Centre)

  • Kristina Tolkunova

    (Almazov National Medical Research Centre)

  • Valeriia Rezapova

    (Almazov National Medical Research Centre
    ITMO University
    Broad Institute)

  • Ivan Molotkov

    (Nationwide Children’s Hospital
    The Ohio State University College of Medicine)

  • Olesya Melnik

    (Almazov National Medical Research Centre)

  • Olga Freylikhman

    (Almazov National Medical Research Centre)

  • Nadezhda Paskar

    (Almazov National Medical Research Centre)

  • Asiiat Alieva

    (Almazov National Medical Research Centre)

  • Elena Baranova

    (Almazov National Medical Research Centre)

  • Elena Bazhenova

    (Almazov National Medical Research Centre)

  • Olga Beliaeva

    (Almazov National Medical Research Centre)

  • Elena Vasilyeva

    (Almazov National Medical Research Centre)

  • Sofia Kibkalo

    (Almazov National Medical Research Centre)

  • Rostislav Skitchenko

    (Almazov National Medical Research Centre)

  • Alina Babenko

    (Almazov National Medical Research Centre)

  • Alexey Sergushichev

    (ITMO University)

  • Alena Dushina

    (Orenburg State Medical University)

  • Ekaterina Lopina

    (Orenburg State Medical University)

  • Irina Basyrova

    (Orenburg State Medical University)

  • Roman Libis

    (Orenburg State Medical University)

  • Dmitrii Duplyakov

    (Samara State Medical University
    Samara Regional Cardiology Dispensary)

  • Natalya Cherepanova

    (Samara Regional Cardiology Dispensary)

  • Kati Donner

    (Institute for Molecular Medicine Finland (FIMM))

  • Paivi Laiho

    (Finnish Institute for Health and Welfare (THL))

  • Anna Kostareva

    (Almazov National Medical Research Centre
    ITMO University)

  • Alexandra Konradi

    (Almazov National Medical Research Centre
    ITMO University)

  • Evgeny Shlyakhto

    (Almazov National Medical Research Centre)

  • Aarno Palotie

    (Broad Institute
    Institute for Molecular Medicine Finland (FIMM)
    Massachusetts General Hospital)

  • Mark J. Daly

    (Broad Institute
    Institute for Molecular Medicine Finland (FIMM)
    Massachusetts General Hospital)

  • Mykyta Artomov

    (Almazov National Medical Research Centre
    ITMO University
    Broad Institute
    Nationwide Children’s Hospital)

Abstract

The population of Russia consists of more than 150 local ethnicities. The ethnic diversity and geographic origins, which extend from eastern Europe to Asia, make the population uniquely positioned to investigate the shared properties of inherited disease risks between European and Asian ancestries. We present the analysis of genetic and phenotypic data from a cohort of 4,145 individuals collected in three metro areas in western Russia. We show the presence of multiple admixed genetic ancestry clusters spanning from primarily European to Asian and high identity-by-descent sharing with the Finnish population. As a result, there was notable enrichment of Finnish-specific variants in Russia. We illustrate the utility of Russian-descent cohorts for discovery of novel population-specific genetic associations, as well as replication of previously identified associations that were thought to be population-specific in other cohorts. Finally, we provide access to a database of allele frequencies and GWAS results for 464 phenotypes.

Suggested Citation

  • Dmitrii Usoltsev & Nikita Kolosov & Oxana Rotar & Alexander Loboda & Maria Boyarinova & Ekaterina Moguchaya & Ekaterina Kolesova & Anastasia Erina & Kristina Tolkunova & Valeriia Rezapova & Ivan Molot, 2024. "Complex trait susceptibilities and population diversity in a sample of 4,145 Russians," Nature Communications, Nature, vol. 15(1), pages 1-10, December.
  • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-50304-1
    DOI: 10.1038/s41467-024-50304-1
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