Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis


Por: Wen S., Kuri-Morales P., Hu F., Nag A., Tachmazidou I., Deevi S.V.V., Taiy H., Smith K.R., Loesch D.P., Burren O.S., Dhindsa R.S., Wasilewski S., Alegre-Díaz J., Berumen J., Emberson J., Torres J.M., Collins R., Carss K., Wang Q., Petrovski S., Tapia-Conyer R., Fabre M.A., Harper A.R., Vassiliou G.S., Mitchell J.

Publicada: 1 ene 2025
Resumen:
The impact of genetic ancestry on the development of clonal hematopoiesis (CH) remains largely unexplored. Here, we compared CH in 136,401 participants from the Mexico City Prospective Study (MCPS) to 416,118 individuals from the UK Biobank (UKB) and observed CH to be significantly less common in MCPS compared to UKB (adjusted odds ratio = 0.59, 95% confidence interval (CI) = [0.57, 0.61], P = 7.31 × 10-185). Among MCPS participants, CH frequency was positively correlated with the percentage of European ancestry (adjusted beta = 0.84, 95% CI = [0.66, 1.03], P = 7.35 × 10-19). Genome-wide and exome-wide association analyses in MCPS identified ancestry-specific variants in the TCL1B locus with opposing effects on DNMT3A-CH versus non-DNMT3A-CH. Meta-analysis of MCPS and UKB identified five novel loci associated with CH, including polymorphisms at PARP11/CCND2, MEIS1 and MYCN. Our CH study, the largest in a non-European population to date, demonstrates the power of cross-ancestry comparisons to derive novel insights into CH pathogenesis. © The Author(s) 2025.

Filiaciones:
Wen S.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

 Department of Haematology, Wellcome-MRC Cambridge Stem Cell Institute, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, United Kingdom

Kuri-Morales P.:
 Instituto Tecnológico y de Estudios Superiores de Monterrey, Monterrey, Mexico

Hu F.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Nag A.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Tachmazidou I.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Deevi S.V.V.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Taiy H.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Smith K.R.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Loesch D.P.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Burren O.S.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Dhindsa R.S.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Waltham, MA, United States

Wasilewski S.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Alegre-Díaz J.:
 Faculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Ciudad de México, Mexico

Berumen J.:
 Faculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Ciudad de México, Mexico

Emberson J.:
 Clinical Trial Service Unit & Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom

Torres J.M.:
 Clinical Trial Service Unit & Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom

Collins R.:
 Clinical Trial Service Unit & Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom

Carss K.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Wang Q.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Waltham, MA, United States

Petrovski S.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Tapia-Conyer R.:
 Faculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Ciudad de México, Mexico

Fabre M.A.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

 Department of Haematology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom

Harper A.R.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

 Clinical Development, Research and Early Development, Respiratory and Immunology (R & I), BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom

Vassiliou G.S.:
 Department of Haematology, Wellcome-MRC Cambridge Stem Cell Institute, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, United Kingdom

 Department of Haematology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom

Mitchell J.:
 Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R & D, AstraZeneca, Cambridge, United Kingdom
ISSN: 10614036
Editorial
Nature Publishing Group, 75 VARICK STREET, 9TH FLOOR, NEW YORK, NY 10013-1917 USA, Estados Unidos America
Tipo de documento: Article
Volumen: 57 Número: 3
Páginas: 572-582
ID de PubMed: 39948438
imagen All Open Access; Hybrid Gold Open Access

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