Whole-genome sequencing analysis of semi-supercentenarians-Reference-Cited by-同舟云学术

Whole-genome sequencing analysis of semi-supercentenarians

Published:2021-05-04 Issue: Volume:10 Page:
ISSN:2050-084X
Container-title:eLife
language:en
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Author:

Garagnani Paolo¹²³^ORCID,Marquis Julien⁴,Delledonne Massimo⁵,Pirazzini Chiara⁶,Marasco Elena¹⁷,Kwiatkowska Katarzyna Malgorzata¹^ORCID,Iannuzzi Vincenzo³,Bacalini Maria Giulia⁶,Valsesia Armand⁴,Carayol Jerome⁴,Raymond Frederic⁴,Ferrarini Alberto⁵,Xumerle Luciano⁵,Collino Sebastiano⁴,Mari Daniela⁸,Arosio Beatrice⁸⁹,Casati Martina⁸,Ferri Evelyn⁸,Monti Daniela¹⁰,Nacmias Benedetta¹¹¹²,Sorbi Sandro¹¹¹²,Luiselli Donata¹³,Pettener Davide¹⁴,Castellani Gastone¹,Sala Claudia¹⁵,Passarino Giuseppe¹⁶,De Rango Francesco¹⁶,D'Aquila Patrizia¹⁶,Bertamini Luca¹¹⁷,Martinelli Nicola¹⁷,Girelli Domenico¹⁷,Olivieri Oliviero¹⁷,Giuliani Cristina¹⁴¹⁸^ORCID,Descombes Patrick⁴,Franceschi Claudio¹⁶¹⁹

Affiliation:

1. Department of Experimental, Diagnostic, and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy

2. Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet at Huddinge University Hospital, Stockholm, Sweden

3. Alma Mater Research Institute on Global Challenges and Climate Change (Alma Climate), University of Bologna, Bologna, Italy

4. Nestlé Research, Société des Produits Nestlé SA, Lausanne, Switzerland

5. Functional Genomics Laboratory, Department of Biotechnology, University of Verona, Verona, Italy

6. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy

7. Applied Biomedical Research Center (CRBA), S. Orsola-Malpighi Polyclinic, Bologna, Italy

8. Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy

9. Geriatric Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

10. Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy

11. Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy

12. IRCCS Fondazione Don Carlo Gnocchi, Firenze, Italy

13. Department for the Cultural Heritage (DBC), University of Bologna, Ravenna, Italy

14. Department of Biological, Geological, and Environmental Sciences (BiGeA), Laboratory of Molecular Anthropology and Centre for Genome Biology, University of Bologna, Bologna, Italy

15. Department of Physics and Astronomy, University of Bologna, Bologna, Italy

16. Department of Biology, Ecology and Earth Sciences, University of Calabria, Rende, Italy

17. Department of Medicine, Unit of Internal Medicine, University of Verona, Verona, Italy

18. School of Anthropology and Museum Ethnography, University of Oxford, Oxford, United Kingdom

19. Department of Applied Mathematics and Laboratory of Systems Biology of Aging, Lobachevsky University, Nizhny Novgorod, Russian Federation

Abstract

Extreme longevity is the paradigm of healthy aging as individuals who reached the extreme decades of human life avoided or largely postponed all major age-related diseases. In this study, we sequenced at high coverage (90X) the whole genome of 81 semi-supercentenarians and supercentenarians [105+/110+] (mean age: 106.6 ± 1.6) and of 36 healthy unrelated geographically matched controls (mean age 68.0 ± 5.9) recruited in Italy. The results showed that 105+/110+ are characterized by a peculiar genetic background associated with efficient DNA repair mechanisms, as evidenced by both germline data (common and rare variants) and somatic mutations patterns (lower mutation load if compared to younger healthy controls). Results were replicated in a second independent cohort of 333 Italian centenarians and 358 geographically matched controls. The genetics of 105+/110+ identified DNA repair and clonal haematopoiesis as crucial players for healthy aging and for the protection from cardiovascular events.

Funder

European Commission

Ministry of Education and Science of the Russian Federation

Nestlé Health Science

European Union 7th Framework Programme

Publisher

eLife Sciences Publications, Ltd

Subject

General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Medicine,General Neuroscience

Link

https://cdn.elifesciences.org/articles/57849/elife-57849-v1.pdf

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