Association of polygenic score and the involvement of cholinergic and glutamatergic pathways with lithium treatment response in patients with bipolar disorder.
Journal
Molecular psychiatry
ISSN: 1476-5578
Titre abrégé: Mol Psychiatry
Pays: England
ID NLM: 9607835
Informations de publication
Date de publication:
11 Jul 2023
11 Jul 2023
Historique:
received:
12
02
2023
accepted:
16
06
2023
revised:
31
05
2023
medline:
12
7
2023
pubmed:
12
7
2023
entrez:
11
7
2023
Statut:
aheadofprint
Résumé
Lithium is regarded as the first-line treatment for bipolar disorder (BD), a severe and disabling mental health disorder that affects about 1% of the population worldwide. Nevertheless, lithium is not consistently effective, with only 30% of patients showing a favorable response to treatment. To provide personalized treatment options for bipolar patients, it is essential to identify prediction biomarkers such as polygenic scores. In this study, we developed a polygenic score for lithium treatment response (Li
Identifiants
pubmed: 37433967
doi: 10.1038/s41380-023-02149-1
pii: 10.1038/s41380-023-02149-1
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Department of Health | National Health and Medical Research Council (NHMRC)
ID : Emerging Leadership Investigator Grant 2021 - 2008000
Commentaires et corrections
Type : UpdateOf
Informations de copyright
© 2023. The Author(s).
Références
Grande I, Berk M, Birmaher B, Vieta E. Bipolar disorder. Lancet. 2016;387:1561–72.
pubmed: 26388529
doi: 10.1016/S0140-6736(15)00241-X
DALYs GBD, Collaborators H. Global, regional, and national disability-adjusted life-years (DALYs) for 359 diseases and injuries and healthy life expectancy (HALE) for 195 countries and territories, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017. Lancet. 2018;392:1859–922.
doi: 10.1016/S0140-6736(18)32335-3
Walker S, Mackay E, Barnett P, Sheridan Rains L, Leverton M, Dalton-Locke C, et al. Clinical and social factors associated with increased risk for involuntary psychiatric hospitalisation: a systematic review, meta-analysis, and narrative synthesis. Lancet Psychiatry. 2019;6:1039–53.
pubmed: 31777340
pmcid: 7029280
doi: 10.1016/S2215-0366(19)30406-7
Chesney E, Goodwin GM, Fazel S. Risks of all-cause and suicide mortality in mental disorders: a meta-review. World Psychiatry. 2014;13:153–60.
pubmed: 24890068
pmcid: 4102288
doi: 10.1002/wps.20128
Cade JF. Lithium salts in the treatment of psychotic excitement. Med J Aust. 1949;2:349–52.
pubmed: 18142718
doi: 10.5694/j.1326-5377.1949.tb36912.x
Malhi GS, Bell E, Bassett D, Boyce P, Bryant R, Hazell P, et al. The 2020 Royal Australian and New Zealand College of Psychiatrists clinical practice guidelines for mood disorders. Aust NZ J Psychiatry. 2021;55:7–117.
doi: 10.1177/0004867420979353
Goodwin GM, Haddad PM, Ferrier IN, Aronson JK, Barnes T, Cipriani A, et al. Evidence-based guidelines for treating bipolar disorder: Revised third edition recommendations from the British Association for Psychopharmacology. J Psychopharmacol (Oxf, Engl). 2016;30:495–553.
doi: 10.1177/0269881116636545
Garnham J, Munro A, Slaney C, Macdougall M, Passmore M, Duffy A, et al. Prophylactic treatment response in bipolar disorder: results of a naturalistic observation study. J Affect Disord. 2007;104:185–90.
pubmed: 17442400
doi: 10.1016/j.jad.2007.03.003
Cipriani A, Hawton K, Stockton S, Geddes JR. Lithium in the prevention of suicide in mood disorders: updated systematic review and meta-analysis. BMJ (Clin Res ed). 2013;346:f3646.
Hou L, Heilbronner U, Degenhardt F, Adli M, Akiyama K, Akula N, et al. Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study. Lancet. 2016;387:1085–93.
pubmed: 26806518
pmcid: 4814312
doi: 10.1016/S0140-6736(16)00143-4
Amare AT, Schubert KO, Baune BT. Pharmacogenomics in the treatment of mood disorders: Strategies and opportunities for personalized psychiatry. EPMA J. 2017;8:211–27.
pubmed: 29021832
pmcid: 5607053
doi: 10.1007/s13167-017-0112-8
Grof P, Duffy A, Cavazzoni P, Grof E, Garnham J, MacDougall M, et al. Is response to prophylactic lithium a familial trait? J Clin psychiatry. 2002;63:942–7.
pubmed: 12416605
doi: 10.4088/JCP.v63n1013
Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Cearns M, et al. Association of polygenic score for major depression with response to lithium in patients with bipolar disorder. Mol Psychiatry. 2021;26:2457–70.
pubmed: 32203155
doi: 10.1038/s41380-020-0689-5
International Consortium on Lithium G, Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, 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. 2018;75:65–74.
Schubert KO, Thalamuthu A, Amare AT, Frank J, Streit F, Adl M, et al. Combining schizophrenia and depression polygenic risk scores improves the genetic prediction of lithium response in bipolar disorder patients. Transl Psychiatry. 2021;11:606.
pubmed: 34845190
pmcid: 8630000
doi: 10.1038/s41398-021-01702-2
Le Clerc S, Lombardi L, Baune BT, Amare AT, Schubert KO, Hou L, et al. HLA-DRB1 and HLA-DQB1 genetic diversity modulates response to lithium in bipolar affective disorders. Sci Rep. 2021;11:17823.
pubmed: 34497278
pmcid: 8426488
doi: 10.1038/s41598-021-97140-7
Chen CH, Lee CS, Lee MT, Ouyang WC, Chen CC, Chong MY, et al. Variant GADL1 and response to lithium therapy in bipolar I disorder. N. Engl J Med. 2014;370:119–28.
pubmed: 24369049
doi: 10.1056/NEJMoa1212444
Stacey D, Schubert KO, Clark SR, Amare AT, Milanesi E, Maj C, et al. A gene co-expression module implicating the mitochondrial electron transport chain is associated with long-term response to lithium treatment in bipolar affective disorder. Transl Psychiatry. 2018;8:183.
pubmed: 30185780
pmcid: 6125294
doi: 10.1038/s41398-018-0237-0
Cearns M, Amare AT, Schubert KO, Thalamuthu A, Frank J, Streit F, et al. Using polygenic scores and clinical data for bipolar disorder patient stratification and lithium response prediction: machine learning approach. Br J Psychiatry. 2022;220:219–28.
doi: 10.1192/bjp.2022.28
Manchia M, Adli M, Akula N, Ardau R, Aubry JM, Backlund L, et al. Assessment of response to lithium maintenance treatment in bipolar disorder: A consortium on Lithium Genetics (ConLiGen) Report. PLoS One. 2013;8:e65636.
pubmed: 23840348
pmcid: 3686769
doi: 10.1371/journal.pone.0065636
Dwyer DB, Kalman JL, Budde M, Kambeitz J, Ruef A, Antonucci LA, et al. An Investigation of Psychosis Subgroups With Prognostic Validation and Exploration of Genetic Underpinnings: The PsyCourse Study. JAMA Psychiatry. 2020;77:523–33.
pubmed: 32049274
doi: 10.1001/jamapsychiatry.2019.4910
Ritter PS, Bermpohl F, Gruber O, Hautzinger M, Jansen A, Juckel G, et al. Aims and structure of the German research consortium bipolife for the study of bipolar disorder. Int J Bipolar Disord. 2016;4:26.
pubmed: 27873290
pmcid: 5118379
doi: 10.1186/s40345-016-0066-0
Nierenberg AA, McElroy SL, Friedman ES, Ketter TA, Shelton RC, Deckersbach T, et al. Bipolar CHOICE (Clinical Health Outcomes Initiative in Comparative Effectiveness): a pragmatic 6-month trial of lithium versus quetiapine for bipolar disorder. J Clin Psychiatry. 2016;77:90–9.
pubmed: 26845264
doi: 10.4088/JCP.14m09349
McKnight RF, Adida M, Budge K, Stockton S, Goodwin GM, Geddes JR. Lithium toxicity profile: A systematic review and meta-analysis. Lancet. 2012;379:721–8.
pubmed: 22265699
doi: 10.1016/S0140-6736(11)61516-X
Malhi GS, Tanious M, Das P, Berk M. The science and practice of lithium therapy. Aust NZ J Psychiatry. 2012;46:192–211.
doi: 10.1177/0004867412437346
Ng F, Mammen OK, Wilting I, Sachs GS, Ferrier IN, Cassidy F, et al. The International Society for Bipolar Disorders (ISBD) consensus guidelines for the safety monitoring of bipolar disorder treatments. Bipolar Disord. 2009;11:559–95.
pubmed: 19689501
doi: 10.1111/j.1399-5618.2009.00737.x
Scott J, Etain B, Manchia M, Brichant-Petitjean C, Geoffroy PA, Schulze T, et al. An examination of the quality and performance of the Alda scale for classifying lithium response phenotypes. Bipolar Disord. 2020;22:255–65.
pubmed: 31466131
doi: 10.1111/bdi.12829
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559–75.
pubmed: 17701901
pmcid: 1950838
doi: 10.1086/519795
Das S, Forer L, Schonherr S, Sidore C, Locke AE, Kwong A, et al. Next-generation genotype imputation service and methods. Nat Genet. 2016;48:1284–7.
pubmed: 27571263
pmcid: 5157836
doi: 10.1038/ng.3656
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet. 2016;48:1279–83.
pubmed: 27548312
pmcid: 5388176
doi: 10.1038/ng.3643
Ge T, Chen CY, Ni Y, Feng YA, Smoller JW. Polygenic prediction via Bayesian regression and continuous shrinkage priors. Nat Commun. 2019;10:1776.
pubmed: 30992449
pmcid: 6467998
doi: 10.1038/s41467-019-09718-5
Southam L, Gilly A, Suveges D, Farmaki AE, Schwartzentruber J, Tachmazidou I, et al. Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. Nat Commun. 2017;8:15606.
pubmed: 28548082
pmcid: 5458552
doi: 10.1038/ncomms15606
Sakaue S, Kanai M, Karjalainen J, Akiyama M, Kurki M, Matoba N, et al. Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan. Nat Med. 2020;26:542–8.
pubmed: 32251405
doi: 10.1038/s41591-020-0785-8
Yee TW. The VGAM package for categorical data analysis. J Stat Softw. 2010;32:1–34.
doi: 10.18637/jss.v032.i10
de Leeuw CA, Mooij JM, Heskes T, Posthuma D. MAGMA: Generalized gene-set analysis of GWAS data. PLoS Comput Biol. 2015;11:e1004219.
pubmed: 25885710
pmcid: 4401657
doi: 10.1371/journal.pcbi.1004219
Thomas PD, Campbell MJ, Kejariwal A, Mi H, Karlak B, Daverman R, et al. PANTHER: A library of protein families and subfamilies indexed by function. Genome Res. 2003;13:2129–41.
pubmed: 12952881
pmcid: 403709
doi: 10.1101/gr.772403
Kruse AC, Kobilka BK, Gautam D, Sexton PM, Christopoulos A, Wess J. Muscarinic acetylcholine receptors: Novel opportunities for drug development. Nat Rev Drug Discov. 2014;13:549–60.
pubmed: 24903776
pmcid: 5818261
doi: 10.1038/nrd4295
Bymaster FP, Felder CC. Role of the cholinergic muscarinic system in bipolar disorder and related mechanism of action of antipsychotic agents. Mol Psychiatry. 2002;7:S57–63.
pubmed: 11986996
doi: 10.1038/sj.mp.4001019
Niswender CM, Conn PJ. Metabotropic glutamate receptors: Physiology, pharmacology, and disease. Annu Rev Pharm Toxicol. 2010;50:295–322.
doi: 10.1146/annurev.pharmtox.011008.145533
Mercier MS, Lodge D. Group III metabotropic glutamate receptors: Pharmacology, physiology and therapeutic potential. Neurochem Res. 2014;39:1876–94.
pubmed: 25146900
doi: 10.1007/s11064-014-1415-y
Sanacora G, Zarate CA, Krystal JH, Manji HK. Targeting the glutamatergic system to develop novel, improved therapeutics for mood disorders. Nat Rev Drug Discov. 2008;7:426–37.
pubmed: 18425072
pmcid: 2715836
doi: 10.1038/nrd2462
Matosin N, Fernandez-Enright F, Frank E, Deng C, Wong J, Huang XF, et al. Metabotropic glutamate receptor mGluR2/3 and mGluR5 binding in the anterior cingulate cortex in psychotic and nonpsychotic depression, bipolar disorder and schizophrenia: implications for novel mGluR-based therapeutics. J Psychiatry Neurosci. 2014;39:407–16.
pubmed: 24949866
pmcid: 4214875
doi: 10.1503/jpn.130242
Itokawa M, Yamada K, Iwayama-Shigeno Y, Ishitsuka Y, Detera-Wadleigh S, Yoshikawa T. Genetic analysis of a functional GRIN2A promoter (GT)n repeat in bipolar disorder pedigrees in humans. Neurosci Lett. 2003;345:53–56.
pubmed: 12809987
doi: 10.1016/S0304-3940(03)00501-9
Tang J, Chen X, Xu X, Wu R, Zhao J, Hu Z, et al. Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-D-aspartate receptor subunit gene (GRIN2A) and schizophrenia. Neurosci Lett. 2006;409:80–2.
pubmed: 17011703
doi: 10.1016/j.neulet.2006.09.022
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010;42:1021–6.
pubmed: 20890276
doi: 10.1038/ng.677
Arning L, Kraus PH, Valentin S, Saft C, Andrich J, Epplen JT. NR2A and NR2B receptor gene variations modify age at onset in Huntington disease. Neurogenetics. 2005;6:25–8.
pubmed: 15742215
doi: 10.1007/s10048-004-0198-8
Leuba G, Vernay A, Kraftsik R, Tardif E, Riederer BM, Savioz A. Pathological reorganization of NMDA receptors subunits and postsynaptic protein PSD-95 distribution in Alzheimer’s disease. Curr Alzheimer Res. 2014;11:86–96.
pubmed: 24156266
doi: 10.2174/15672050113106660170
Blacker CJ, Lewis CP, Frye MA, Veldic M. Metabotropic glutamate receptors as emerging research targets in bipolar disorder. Psychiatry Res. 2017;257:327–37.
pubmed: 28800512
doi: 10.1016/j.psychres.2017.07.059
Khayachi A, Ase A, Liao C, Kamesh A, Kuhlmann N, Schorova L, et al. Chronic lithium treatment alters the excitatory/ inhibitory balance of synaptic networks and reduces mGluR5-PKC signalling in mouse cortical neurons. J Psychiatry Neurosci. 2021;46:E402–14.
pubmed: 34077150
pmcid: 8327978
doi: 10.1503/jpn.200185
Malhi GS, Bell E, Outhred T, Berk M. Lithium therapy and its interactions. Aust Prescr. 2020;43:91–3.
pubmed: 32675910
pmcid: 7358048
doi: 10.18773/austprescr.2020.024