Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation.

Autor: Jain PR; Department of Biological Sciences, Purdue University, West Lafayette, IN, USA., Burch M; Department of Computer Sciences, Purdue University, West Lafayette, IN, USA., Martinez M; Department of Biological Sciences, Purdue University, West Lafayette, IN, USA., Mir P; Unidad de Trastornos del Movimiento, Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain., Fichna JP; Department of Biological Sciences, Purdue University, West Lafayette, IN, USA.; Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland., Zekanowski C; Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland., Rizzo R; Child and Adolescent Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Barta C; Department of Molecular Biology, Institute of Biochemistry and Molecular Biology, Semmelweis University, Budapest, Hungary., Yannaki E; Hematology Department- Hematopoietic Cell Transplantation Unit, Gene and Cell Therapy Center, George Papanikolaou Hospital, Thessaloniki, Greece.; Department of Medicine, University of Washington, Seattle, WA, USA., Stamatoyannopoulos J; Altius Institute for Biomedical Sciences, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Department of Medicine, Division of Oncology, University of Washington, Seattle, WA, USA., Drineas P; Department of Computer Sciences, Purdue University, West Lafayette, IN, USA., Paschou P; Department of Biological Sciences, Purdue University, West Lafayette, IN, USA. ppaschou@purdue.edu.
Jazyk: angličtina
Zdroj: BMC genomic data [BMC Genom Data] 2023 Nov 20; Vol. 24 (1), pp. 70. Date of Electronic Publication: 2023 Nov 20.
DOI: 10.1186/s12863-023-01168-9
Abstrakt: Complex disorders are caused by a combination of genetic, environmental and lifestyle factors, and their prevalence can vary greatly across different populations. The extent to which genetic risk, as identified by Genome Wide Association Study (GWAS), correlates to disease prevalence in different populations has not been investigated systematically. Here, we studied 14 different complex disorders and explored whether polygenic risk scores (PRS) based on current GWAS correlate to disease prevalence within Europe and around the world. A clear variation in GWAS-based genetic risk was observed based on ancestry and we identified populations that have a higher genetic liability for developing certain disorders. We found that for four out of the 14 studied disorders, PRS significantly correlates to disease prevalence within Europe. We also found significant correlations between worldwide disease prevalence and PRS for eight of the studied disorders with Multiple Sclerosis genetic risk having the highest correlation to disease prevalence. Based on current GWAS results, the across population differences in genetic risk for certain disorders can potentially be used to understand differences in disease prevalence and identify populations with the highest genetic liability. The study highlights both the limitations of PRS based on current GWAS but also the fact that in some cases, PRS may already have high predictive power. This could be due to the genetic architecture of specific disorders or increased GWAS power in some cases.
(© 2023. The Author(s).)
Databáze: MEDLINE
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