Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity

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URI: https://hdl.handle.net/10347/40967
ISSN: 2399-3642
DOI: 10.1038/s42003-024-07314-y

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2025-01-09

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Nature Research
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The frequency of mitochondrial DNA haplogroups (mtDNA-HG) in humans is known to be shaped by migration and repopulation. Mounting evidence indicates that mtDNA-HG are not phenotypically neutral, and selection may contribute to its distribution. Haplogroup H, the most abundant in Europe, improved survival in sepsis. Here we developed a random forest trained model for mitochondrial haplogroup calling using data procured from GWAS arrays. Our results reveal that in the context of the SARS-CoV-2 pandemic, HV branch were found to represent protective factors against the development of critical SARS-CoV-2 in an analysis of 14,349 patients. These results highlight the role of mtDNA in the response to infectious diseases and support the proposal that its expansion and population proportion has been influenced by selection through successive pandemics.

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Cabrera-Alarcon, J.L., Cruz, R., Rosa-Moreno, M. et al. Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity. Commun Biol 8, 33 (2025). https://doi.org/10.1038/s42003-024-07314-y

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The authors thank M. M. Muñoz-Hernandez, R. Martínez de Mena and E.R. Martínez Jiménez, for technical assistance. Scheme figures were made with BioRender. We particularly acknowledge all the patients, Banco Nacional de ADN, Biobanco del Sistema de Salud de Aragón, Biobanc Fundació Institut d'Investigació Sanitària Illes Balears, Biobanco del Complexo Hospitalario Universitario de Santiago, Biobanco Vasco, for their collaboration and providing materials. JAE laboratory is supported by: RTI2018-099357-B-I00 and PID2021-1279880B-and TED2021-131611B-I00 funded by MCIN/AEI/10.13039/501100011033 and the, and CIBERFES (CB16/10/00282), Human Frontier Science Program (grant RGP0016/2018), and Leducq Transatlantic Networks (17CVD04). MR-M is supported by a FPI/PRE2021-097721 fellowship. JAE and FSC are supported by TED2021-131611B-I00 funded by MCIN/AEI/10.13039/501100011033 and the European Union “NextGenerationEU”/Plan de Recuperación Transformación y Resiliencia -PRTR. FSC received funding [grant no. PID2022-141527OB-I00] by the MCIN/AEI/10.13039/501100011033/ and by FEDER Una manera de hacer Europa. This work was supported by Fundación Amancio Ortega Gaona, Banco de Santander S.A. and Instituto de Salud Carlos III (COV20/00622) and the European Regional Development Fund. Genotyping service was carried out at CEGEN-PRB3-ISCIII, supported by grant PT17/0019, of the PE I+D+i 2013-2016, funded by ISCIII and ERDF. The CNIC is supported by the Instituto de Salud Carlos III (ISCIII), the Ministerio de Ciencia e Innovación (MCIN) and the Pro CNIC Foundation) and is a Severo Ochoa Center of Excellence (grant CEX2020-001041-S funded by MICIN/AEI/10.13039/501100011033).

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Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.
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Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría