A Systematic Review and Analysis of the Use of Polygenic Scores in Pharmacogenomics.


Journal

Clinical pharmacology and therapeutics
ISSN: 1532-6535
Titre abrégé: Clin Pharmacol Ther
Pays: United States
ID NLM: 0372741

Informations de publication

Date de publication:
04 2022
Historique:
received: 07 10 2021
accepted: 18 12 2021
pubmed: 26 12 2021
medline: 23 4 2022
entrez: 25 12 2021
Statut: ppublish

Résumé

Polygenic scores (PGSs) have emerged as promising tools for complex trait risk prediction. The application of these scores to pharmacogenomics provides new opportunities to improve the prediction of treatment outcomes. To gain insight into this area of research, we conducted a systematic review and accompanying analysis. This review uncovered 51 papers examining the use of PGSs for drug-related outcomes, with the majority of these papers focusing on the treatment of psychiatric disorders (n = 30). Due to difficulties in collecting large cohorts of uniformly treated patients, the majority of pharmacogenomic PGSs were derived from large-scale genome-wide association studies of disease phenotypes that were related to the pharmacogenomic phenotypes under investigation (e.g., schizophrenia-derived PGSs for antipsychotic response prediction). Examination of the research participants included in these studies revealed that the majority of cohort participants were of European descent (78.4%). These biases were also reflected in research affiliations, which were heavily weighted towards institutions located in Europe and North America, with no first or last authors originating from institutions in Africa or South Asia. There was also substantial variability in the methods used to develop PGSs, with between 3 and 6.6 million variants included in the PGSs. Finally, we observed significant inconsistencies in the reporting of PGS analyses and results, particularly in terms of risk model development and application, coupled with a lack of data transparency and availability, with only three pharmacogenomics PGSs deposited on the Polygenic Score Catalog. These findings highlight current gaps and key areas for future pharmacogenomic PGS research.

Identifiants

pubmed: 34953075
doi: 10.1002/cpt.2520
doi:

Types de publication

Journal Article Systematic Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

919-930

Subventions

Organisme : MRC
ID : MR/L004933/2-R19
Organisme : MRC
ID : IT17848
Organisme : Mitacs
Organisme : Canadian
Organisme : Health

Informations de copyright

© 2021 The Authors. Clinical Pharmacology & Therapeutics published by Wiley Periodicals LLC on behalf of American Society for Clinical Pharmacology and Therapeutics.

Références

Claussnitzer, M. et al. A brief history of human disease genetics. Nature 577, 179-189 (2020).
Alfirevic, A. & Pirmohamed, M. Genomics of adverse drug reactions. Trends Pharmacol. Sci. 38, 100-109 (2017).
Pirmohamed, M. & Park, B.K. Genetic susceptibility to adverse drug reactions. Trends Pharmacol. Sci. 22, 298-305 (2001).
Wray, N.R., Goddard, M.E. & Visscher, P.M. Prediction of individual genetic risk to disease from genome-wide association studies. Genome Res. 17, 1520-1528 (2007).
Zeggini, E., Gloyn, A.L., Barton, A.C. & Wain, L.V. Translational genomics and precision medicine: Moving from the lab to the clinic. Science 365, 1409-1413 (2019).
Choi, S.W., Mak, T.S.H. & O'Reilly, P.F. Tutorial: a guide to performing polygenic risk score analyses. Nat. Protoc. 15, 2759-2772 (2020).
Khera, A.V. et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat. Genet. 50, 1219-1224 (2018).
Tam, V., Patel, N., Turcotte, M., Bossé, Y., Pare, G. & Meyre, D. Benefits and limitations of genome-wide association studies. Nat. Rev. Genet. 20, 467-484 (2019).
Mistry, S., Harrison, J.R., Smith, D.J., Escott-Price, V. & Zammit, S. The use of polygenic risk scores to identify phenotypes associated with genetic risk of schizophrenia: systematic review. Schizophr. Res. 197, 2-8 (2018).
Harrison, J.R., Mistry, S., Muskett, N. & Escott-Price, V. From polygenic scores to precision medicine in Alzheimer's disease: a systematic review. J. Alzheimers Dis. 74, 1271-1283 (2020).
Mistry, S., Harrison, J.R., Smith, D.J., Escott-Price, V. & Zammit, S. The use of polygenic risk scores to identify phenotypes associated with genetic risk of bipolar disorder and depression: a systematic review. J. Affect. Disord. 234, 148-155 (2018).
Forgetta, V. et al. Development of a polygenic risk score to improve screening for fracture risk: a genetic risk prediction study. PLoS Medicine 17, e1003152 (2020).
Guinan, K. et al. Economic evaluation of a new polygenic risk score to predict nephropathy in adult patients with type 2 diabetes. Can J. Diabetes 45, 129-136 (2021).
Hu, M.X. et al. The association of depression and anxiety with cardiac autonomic activity: the role of confounding effects of antidepressants. Depress. Anxiety 36, 1163-1172 (2019).
Zhao, C., Zhu, P., Shen, Q. & Jin, L. Prospective association of a genetic risk score with major adverse cardiovascular events in patients with coronary artery disease. Medicine (Baltimore) 96, e9473 (2017).
Koskinen, S. et al. INSIG2 polymorphism and weight gain, dyslipidemia and serum adiponectin in Finnish patients with schizophrenia treated with clozapine. Pharmacogenomics 17, 1987-1997 (2016).
European Medicines Agency. Terminology in pharmacogenetics <https://www.ema.europa.eu/en/terminology-pharmacogenetics> (2002).
Rolfes, L., van Hunsel, F., Taxis, K. & van Puijenbroek, E. The impact of experiencing adverse drug reactions on the patient's quality of life: a retrospective cross-sectional study in the Netherlands. Drug Saf. 39, 769-776 (2016).
Garcia-González, X., Cabaleiro, T., Herrero, M.J., McLeod, H. & López-Fernandez, L.A. Clinical implementation of pharmacogenetics. Drug Metab. Pers. Ther. 31, 9-16 (2016).
Pirmohamed, M. Personalized pharmacogenomics: predicting efficacy and adverse drug reactions. Annu. Rev. Genomics Hum. Genet. 15, 349-370 (2014).
McInnes, G., Yee, S.W., Pershad, Y. & Altman, R.B. Genomewide association studies in pharmacogenomics. Clin. Pharmacol. Ther. 110, 637-648 (2021).
Johnson, D., Sarvis, M., Kowalec, K., Wright, G.E. & Drögemoller, B.I. The use of polygenic risk scores in pharmacogenetics - a systematic review and future avenues of research. PROSPERO 2021 CRD42021236607 2021 <https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=236607> (2021).
Page, M.J. et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ 372, n71 (2021).
van der Merwe, C., Passchier, R., Mufford, M., Ramesar, R., Dalvie, S. & Stein, D.J. Polygenic risk for schizophrenia and associated brain structural changes: a systematic review. Compr. Psychiatry 88, 77-82 (2019).
Dezhina, Z., Ranlund, S., Kyriakopoulos, M., Williams, S.C.R. & Dima, D. A systematic review of associations between functional MRI activity and polygenic risk for schizophrenia and bipolar disorder. Brain Imaging Behav. 13, 862-877 (2019).
R Core Team. R: A language and environment for statistical computing. (R Foundation for Statistical Computing, Vienna, Austria, 2017). <https://www.R-project.org/>.
Fantini, D. EasyPubMed: search and retrieve scientific publication records from PubMed. R pacakge version 2.13 <https://CRAN.R-project.org/package=easyPubMed> (2019).
World Health Organization. ICD-10: international statistical classification of diseases and related health problems: tenth revision, 2nd edn. (World Health Organization, Geneva, 2004).
World Health Organization Collaborating Centre for Drug Statistics Methodology. ATC/DDD Index 2021 <https://www.whocc.no/atc_ddd_index/> (2021).
Huddart, R. et al. Standardized biogeographic grouping system for annotating populations in pharmacogenetic research. Clin. Pharmacol. Ther. 105, 1256-1262 (2019).
Kalaydjieva, L., Morar, B., Chaix, R. & Tang, H. A newly discovered founder population: the Roma/Gypsies. BioEssays 27, 1084-1094 (2005).
Lambert, S.A. et al. The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation. Nat. Genet. 53, 420-425 (2021).
Polygenic Score Catalog. Polygenic Score Catalog Downloads 2021. <https://www.pgscatalog.org/downloads/>.
Wand, H. et al. Improving reporting standards for polygenic scores in risk prediction studies. Nature 591, 211-219 (2021).
R Studio Team. RStudio: Integrated Development for R. (RStudio, Inc., Boston, MA, 2016).
Wickham, H. ggplot2: Elegant Graphics for Data Analysis. (Springer-Verlag, New York, 2009). https://doi.org/10.1007/978-0-387-98141-3.
Kahle, D. & Wickham, H. ggmap: spatial visualization with ggplot2. R J 5, 144-161 (2013).
Emdin, C.A. et al. Genome-wide polygenic score and cardiovascular outcomes with evacetrapib in patients with high-risk vascular disease: a nested case-control study. Circ. Genom. Precis. Med. 13, e002767 (2020).
Li, J.H. et al. A polygenic score for type 2 diabetes risk is associated with both the acute and sustained response to sulfonylureas. Diabetes 70, 293-300 (2021).
Kogelman, L.J.A. et al. Migraine polygenic risk score associates with efficacy of migraine-specific drugs. Neurol. Genet. 5, e364 (2019).
Amare, A.T. et al. The association of obesity and coronary artery disease genes with response to SSRIs treatment in major depression. J. Neural. Transm. (Vienna) 126, 35-45 (2019).
Zhang, J.-P. et al. Schizophrenia polygenic risk score as a predictor of antipsychotic efficacy in first-episode psychosis. Am. J. Psychiatry 176, 21-28 (2019).
Amare, A.T. et al. Association of the polygenic scores for personality traits and response to selective serotonin reuptake inhibitors in patients with major depressive disorder. Front Psychiatry 9, 65 (2018).
Koido, M. et al. Polygenic architecture informs potential vulnerability to drug-induced liver injury. Nat. Med. 26, 1541-1548 (2020).
Gasse, C. et al. Schizophrenia polygenic risk scores, urbanicity and treatment-resistant schizophrenia. Schizophr. Res. 212, 79-85 (2019).
Santoro, M.L. et al. Polygenic risk score analyses of symptoms and treatment response in an antipsychotic-naive first episode of psychosis cohort. Transl. Psychiatry 8, 174 (2018).
Li, J., Yoshikawa, A., Brennan, M.D., Ramsey, T.L. & Meltzer, H.Y. Genetic predictors of antipsychotic response to lurasidone identified in a genome wide association study and by schizophrenia risk genes. Schizophr. Res. 192, 194-204 (2018).
Frank, J. et al. Identification of increased genetic risk scores for schizophrenia in treatment-resistant patients. Mol. Psychiatry 20, 150-151 (2015).
Mayén-Lobo, Y.G. et al. Integrative genomic-epigenomic analysis of clozapine-treated patients with refractory psychosis. Pharmaceuticals (Basel) 14, 118 (2021).
Marshe, V.S. et al. Genome-wide analysis suggests the importance of vascular processes and neuroinflammation in late-life antidepressant response. Transl. Psychiatry 11, 127 (2021).
Uher, R. et al. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. Am. J. Psychiatry 170, 207-217 (2013).
Amare, A.T. et al. Association of polygenic score for major depression with response to lithium in patients with bipolar disorder. Mol. Psychiatry 26, 2457-2470 (2021).
International Consortium on Lithium Genetics et al. Association of polygenic score for schizophrenia and HLA antigen and inflammation genes with response to lithium in bipolar affective disorder: a genome-wide association study. JAMA Psychiatry 75, 65-74 (2018).
Zhong, Y. et al. The association with quantitative response to attention-deficit/hyperactivity disorder medication of the previously identified neurodevelopmental network genes. J. Child Adolesc. Psychopharmacol. 30, 348-354 (2020).
Alemany-Navarro, M. et al. Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene-environment interaction approach. Transl. Psychiatry 9, 70 (2019).
Damask, A. et al. Patients with high genome-wide polygenic risk scores for coronary artery disease may receive greater clinical benefit from alirocumab treatment in the ODYSSEY OUTCOMES trial. Circulation 141, 624-636 (2020).
Kullo, I.J. et al. Incorporating a genetic risk score into coronary heart disease risk estimates: effect on low-density lipoprotein cholesterol levels (the MI-GENES clinical trial). Circulation 133, 1181-1188 (2016).
Lanfear, D.E. et al. Polygenic score for beta-blocker survival benefit in European ancestry patients with reduced ejection fraction heart failure. Circ. Heart Fail. 13, e007012 (2020).
Sánez Tähtisalo, H. et al. Human essential hypertension: no significant association of polygenic risk scores with antihypertensive drug responses. Sci. Rep. 10, 11940 (2020).
Tadros, R. et al. Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores. Eur. Heart J. 40, 3097-3107 (2019).
Noyes, J.D., Mordi, I.R., Doney, A.S., Palmer, C.N.A., Pearson, E.R. & Lang, C.C. Genetic risk of diverticular disease predicts early stoppage of nicorandil. Clin. Pharmacol. Ther. 108, 1171-1175 (2020).
Suzuki, K. et al. Genetic background of mesalamine-induced fever and diarrhea in Japanese patients with inflammatory bowel disease. Inflamm. Bowel Dis. 28, 21-31 (2021).
Moran, C.J., Huang, H., Rivas, M., Kaplan, J.L., Daly, M.J. & Winter, H.S. Genetic variants in cellular transport do not affect mesalamine response in ulcerative colitis. PLoS One 13, e0192806 (2018).
Vedak, P., Kroshinsky, D., St John, J., Xavier, R.J., Yajnik, V. & Ananthakrishnan, A.N. Genetic basis of TNF-alpha antagonist associated psoriasis in inflammatory bowel diseases: a genotype-phenotype analysis. Aliment. Pharmacol. Ther. 43, 697-704 (2016).
Khan, Z. et al. Polygenic risk for skin autoimmunity impacts immune checkpoint blockade in bladder cancer. Proc. Natl. Acad. Sci. USA 117, 12288-12294 (2020).
Jarvis, K.B. et al. Polygenic risk score-analysis of thromboembolism in patients with acute lymphoblastic leukemia. Thromb. Res. 196, 15-20 (2020).
Finch, E.R. et al. Asparaginase formulation impacts hypertriglyceridemia during therapy for acute lymphoblastic leukemia. Pediatr. Blood Cancer 67, e28040 (2020).
Dauber, A. et al. A genome-wide pharmacogenetic study of growth hormone responsiveness. J. Clin. Endocrinol. Metab. 105, 3203-3214 (2020).
Kuo, H.-C. et al. Prediction for intravenous immunoglobulin resistance by using weighted genetic risk score identified from genome-wide association study in Kawasaki disease. Circ. Cardiovasc. Genet. 10, e001625 (2017).
Eusebi, P., Romoli, M., Paoletti, F.P., Tambasco, N., Calabresi, P. & Parnetti, L. Risk factors of levodopa-induced dyskinesia in Parkinson's disease: results from the PPMI cohort. NPJ Parkinsons Dis. 4, 33 (2018).
Manousaki, D. et al. A polygenic risk score as a risk factor for medication-associated fractures. J. Bone Miner. Res. 35, 1935-1941 (2020).
Barceló, C. et al. Impact of genetic and nongenetic factors on body mass index and waist-hip ratio change in HIV-infected individuals initiating antiretroviral therapy. Open Forum Infect. Dis. 7, ofz464 (2020).
Ward, J. et al. Polygenic risk scores for major depressive disorder and neuroticism as predictors of antidepressant response: meta-analysis of three treatment cohorts. PLoS One 13, e0203896 (2018).
Martin, A.R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B.M. & Daly, M.J. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat. Genet. 51, 584-591 (2019).
Tata, E.B., Ambele, M.A. & Pepper, M.S. Barriers to implementing clinical pharmacogenetics testing in sub-Saharan Africa. A critical review. Pharmaceutics 12, 809 (2020).
Peterson, R.E. et al. Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations. Cell 179, 589-603 (2019).
Popejoy, A.B. & Fullerton, S.M. Genomics is failing on diversity. Nature 538, 161-164 (2016).
Lewis, C.M. & Vassos, E. Polygenic risk scores: from research tools to clinical instruments. Genome Med. 12, 44 (2020).
Fabbri, C. & Serretti, A. Clinical application of antidepressant pharmacogenetics: Considerations for the design of future studies. Neurosci. Lett. 726, 133651 (2020).
Sudlow, C. et al. UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Medicine 12, e1001779 (2015).
Ouellette, T.W., Wright, G.E., Drögemöller, B.I., Ross, C.J. & Carleton, B.C. Integrating disease and drug-related phenotypes for improved identification of pharmacogenomic variants. Pharmacogenomics 22, 251-261 (2021).
Reay, W.R. & Cairns, M.J. Advancing the use of genome-wide association studies for drug repurposing. Nat. Rev. Genet. 22, 658-671 (2021).
Wright, G.E.B., Carleton, B., Hayden, M.R. & Ross, C.J.D. The global spectrum of protein-coding pharmacogenomic diversity. Pharmacogenomics J. 18, 187-195 (2018).
Drögemöller, B.I., Wright, G.E.B., Niehaus, D.J.H., Emsley, R. & Warnich, L. Next-generation sequencing of pharmacogenes: a critical analysis focusing on schizophrenia treatment. Pharmacogenet. Genomics 23, 666-674 (2013).
Barnes, D.R. et al. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet. Med. 22, 1653-1666 (2020).
El-Boraie, A. et al. Evaluation of a weighted genetic risk score for the prediction of biomarkers of CYP2A6 activity. Addict. Biol. 25, e12741 (2020).

Auteurs

Danielle Johnson (D)

Department of Health Data Science, University of Liverpool, Liverpool, UK.

MacKenzie A P Wilke (MAP)

Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

Sarah M Lyle (SM)

Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

Kaarina Kowalec (K)

College of Pharmacy, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

Andrea Jorgensen (A)

Department of Health Data Science, University of Liverpool, Liverpool, UK.

Galen E B Wright (GEB)

Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Department of Pharmacology and Therapeutics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Neuroscience Research Program, Kleysen Institute for Advanced Medicine, Health Sciences Centre and Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

Britt I Drögemöller (BI)

Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
CancerCare Manitoba Research Institute, Winnipeg, Manitoba, Canada.
Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.

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