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

Dmitrii Usoltsev, Nikita Kolosov, Oxana Rotar, Alexander Loboda, Maria Boyarinova, Ekaterina Moguchaya, Ekaterina Kolesova, Anastasia Erina, Kristina Tolkunova, Valeriia Rezapova, Ivan Molotkov, Olesya Melnik, Olga Freylikhman, Nadezhda Paskar, Asiiat Alieva, Elena Baranova, Elena Bazhenova, Olga Beliaeva, Elena Vasilyeva, Sofia Kibkalo, Rostislav Skitchenko, Alina Babenko, Alexey Sergushichev, Alena Dushina, Ekaterina Lopina, Irina Basyrova, Roman Libis, Dmitrii Duplyakov, Natalya Cherepanova, Kati Donner, Paivi Laiho, Anna Kostareva, Alexandra Konradi, Evgeny Shlyakhto, Aarno Palotie, Mark J. Daly and Mykyta Artomov ()
Additional contact information
Dmitrii Usoltsev: Almazov National Medical Research Centre
Nikita Kolosov: Almazov National Medical Research Centre
Oxana Rotar: Almazov National Medical Research Centre
Alexander Loboda: Almazov National Medical Research Centre
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
Ivan Molotkov: Nationwide Children’s Hospital
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
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
Alexandra Konradi: Almazov National Medical Research Centre
Evgeny Shlyakhto: Almazov National Medical Research Centre
Aarno Palotie: Broad Institute
Mark J. Daly: Broad Institute
Mykyta Artomov: Almazov National Medical Research Centre

Nature Communications, 2024, vol. 15, issue 1, 1-10

Abstract: 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.

Date: 2024
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-50304-1

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DOI: 10.1038/s41467-024-50304-1

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