Increased schizophrenia family history burden and reduced premorbid IQ in treatment-resistant schizophrenia: a Swedish National Register and Genomic Study.
Journal
Molecular psychiatry
ISSN: 1476-5578
Titre abrégé: Mol Psychiatry
Pays: England
ID NLM: 9607835
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
received:
04
04
2019
accepted:
23
10
2019
revised:
23
09
2019
pubmed:
13
11
2019
medline:
28
1
2022
entrez:
13
11
2019
Statut:
ppublish
Résumé
A high proportion of those with schizophrenia experience treatment non-response, placing them at higher risk for mortality and suicide attempts, compared to treatment responders. The clinical, social, and economic burden of treatment-resistant schizophrenia (TRS) are substantial. Previous genomic and epidemiological studies of TRS were often limited by sample size or lack of comprehensive genomic data. We aimed to systematically understand the clinical, demographic, and genomic correlates of TRS using epidemiological and genetic epidemiological modelling in a Swedish national population sample (n = 24,706) and then in a subgroup with common variant genetic risk scores, rare copy-number variant burden, and rare exonic burden (n = 4936). Population-based analyses identified increasing schizophrenia family history to be significantly associated with TRS (highest quartile of familial burden vs. lowest: adjusted odds ratio (aOR): 1.31, P = 4.8 × 10
Identifiants
pubmed: 31712719
doi: 10.1038/s41380-019-0575-1
pii: 10.1038/s41380-019-0575-1
pmc: PMC9731609
mid: NIHMS1852467
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
4487-4495Subventions
Organisme : NIMH NIH HHS
ID : R01 MH077139
Pays : United States
Informations de copyright
© 2019. The Author(s), under exclusive licence to Springer Nature Limited.
Références
Barnes T. Schizophrenia Consensus Group of British Association for Psychopharmacology. Evidence-based guidelines for the pharmacological treatment of schizophrenia: recommendations from the British Association for Psychopharmacology. J Psychopharmacol. 2011;25:567–620.
pubmed: 21292923
Wimberley T, MacCabe JH, Laursen TM, Sørensen HJ, Astrup A, Horsdal HT, et al. Mortality and self-harm in association with clozapine in treatment-resistant schizophrenia. Am J Psychiatry. 2017;174:990–8.
pubmed: 28750580
Wimberley T, Stovring H, Sorensen HJ, Horsdal HT, MacCabe JH, Gasse C, et al. Predictors of treatment resistance in patients with schizophrenia: A population-based cohort study. Lancet Psychiatry. 2016;3:358–66.
pubmed: 26922475
Kennedy JL, Altar CA, Taylor DL, Degtiar I, Hornberger JC. The social and economic burden of treatment-resistant schizophrenia: a systematic literature review. Int Clin Psychopharmacol. 2014;29:63–76.
pubmed: 23995856
de Bartolomeis A, Balletta R, Giordano S, Buonaguro EF, Latte G, Iasevoli F. Differential cognitive performances between schizophrenic responders and non-responders to antipsychotics: correlation with course of the illness, psychopathology, attitude to the treatment and antipsychotics doses. Psychiatry Res. 2013;210:387–95.
pubmed: 23910239
Frydecka D, Beszłej JA, Gościmski P, Kiejna A, Misiak B. Profiling cognitive impairment in treatment-resistant schizophrenia patients. Psychiatry Res. 2016;235:133–8.
pubmed: 26706131
Kane J, Honigfeld G, Singer J, Meltzer H. Clozapine for the treatment-resistant schizophrenic. A double-blind comparison with chlorpromazine. Arch Gen Psychiatry. 1988;45:789–96.
pubmed: 3046553
Suzuki T, Remington G, Mulsant BH, Rajji TK, Uchida H, Graff-Guerrero A, et al. Treatment resistant schizophrenia and response to antipsychotics: A review. Schizophr Res. 2011;133:54–62.
pubmed: 22000940
Bachmann CJ, Aagaard L, Bernardo M, Brandt L, Cartabia M, Clavenna A, et al. International trends in clozapine use: a study in 17 countries. Acta Psychiatr Scand. 2017;136:37–51.
pubmed: 28502099
Crespo-Facorro B, de la Foz VOG, Ayesa-Arriola R, Pérez-Iglesias R, Mata I, Suarez-Pinilla P, et al. Prediction of acute clinical response following a first episode of non affective psychosis: Results of a cohort of 375 patients from the Spanish PAFIP study. Prog Neuro-Psychopharmacol Biol Psychiatry. 2013;44:162–7.
Hassan AN, De Luca V. The effect of lifetime adversities on resistance to antipsychotic treatment in schizophrenia patients. Schizophr Res. 2015;161:496–500.
pubmed: 25468176
Frank J, Lang M, Witt SH, Strohmaier J, Rujescu D, Cichon S, et al. Identification of increased genetic risk scores for schizophrenia in treatment-resistant patients. Mol Psychiatry. 2015;20:150–1.
pubmed: 24888364
Martin AK, Mowry B. Increased rare duplication burden genomewide in patients with treatment-resistant schizophrenia. Psychol Med. 2016;46:469–76.
pubmed: 26349998
Horsdal HT, Meier SM, Wimberley T, Agerbo E, Gasse C, MacCabe JH. Polygenic risk score for schizophrenia and treatment-resistant schizophrenia. Schizophr Bull. 2017;43:1064–9.
pubmed: 28184875
pmcid: 5581885
Zhang JP, Robinson D, Yu J, Gallego J, Fleischhacker WW, Kahn RS, et al. Schizophrenia polygenic risk score as a predictor of antipsychotic efficacy in first-episode psychosis. Am J Psychiatry. 2019;176:21–8.
pubmed: 30392411
Lee SH, DeCandia TR, Ripke S, Yang J. Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ) PF, International Schizophrenia Consortium (ISC) ME, et al. Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. Nat Genet. 2012;44:247–50.
pubmed: 22344220
pmcid: 3327879
Ruderfer DM, Charney AW, Readhead B, Kidd BA, Kähler AK, Kenny PJ, et al. Polygenic overlap between schizophrenia risk and antipsychotic response: A genomic medicine approach. Lancet Psychiatry. 2016;3:350–7.
pubmed: 26915512
pmcid: 4982509
Wang Q, Man WuH, Yue W, Yan H, Zhang Y, Tan L, et al. Effect of damaging rare mutations in synapse-related gene sets on response to short-term antipsychotic medication in chinese patients with schizophrenia. JAMA Psychiatry. 2018;75:1261.
pubmed: 30422257
pmcid: 6583032
Jedenius E, Tanskanen A, Leval A, Hoti F, Majak M, Taipale H, et al. Real-world effectiveness of antipsychotic treatments in a nationwide cohort of 29 823 patients with schizophrenia. JAMA Psychiatry. 2017;74:686.
pubmed: 28593216
pmcid: 5710250
Wettermark B, Hammar N, Fored CM, Leimanis A, Olausson PO, Bergman U, et al. The new Swedish Prescribed Drug Register Opportunities for pharmacoepidemiological research and experience from the first six months. Pharmacoepidemiol Drug Saf. 2007;16:726–35.
pubmed: 16897791
Ripke S, O’Dushlaine C, Chambert K, Moran JL, Kahler AK, Akterin S, et al. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet. 2013;45:1150–9.
pubmed: 23974872
pmcid: 3827979
Ludvigsson JF, Andersson E, Ekbom A, Feychting M, Kim JL, Reuterwall C, et al. External review and validation of the Swedish national inpatient register. BMC Public Health. 2011;11:450.
pubmed: 21658213
pmcid: 3142234
Ekbom A. The Swedish Multi-generation Register. Methods Mol Biol. 2010;675:215–20.
Brooke HL, Talbäck M, Hörnblad J, Johansson LA, Ludvigsson JF, Druid H, et al. The Swedish cause of death register. Eur J Epidemiol. 2017;32:765–73.
pubmed: 28983736
pmcid: 5662659
Ajnakina O, Horsdal HT, Lally J, MacCabe JH, Murray RM, Gasse C, et al. Validation of an algorithm-based definition of treatment resistance in patients with schizophrenia. Schizophr Res. 2018;197:294–7.
pubmed: 29472163
Sullivan PF, Wells JE, Joyce PR, Bushnell JA, Mulder RT, Oakley-Browne MA. Family history of depression in clinic and community samples. J Affect Disord. 1996;40:159–68.
pubmed: 8897115
Purcell SM, Wray NR, Stone JL, Visscher PM, O’Donovan MC, Sullivan PF, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009;10:8192–92.
Ripke S, Neale BM, Corvin A, Walters JTR, Farh KH, Holmans PA, et al. Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014;511:421–7.
pmcid: 4112379
Cross-Disorder Group of the Psychiatric Genomics Consortium. Identification of the Psychiatric Genomics Consortium. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet (Lond, Engl). 2013;381:1371–9.
Hubbard L, Tansey KE, Rai D, Jones P, Ripke S, Chambert KD, et al. Evidence of common genetic overlap between schizophrenia and cognition. Schizophr Bull. 2016;42:832–42.
pubmed: 26678674
Leeson VC, Barnes TRE, Hutton SB, Ron MA, Joyce EM. IQ as a predictor of functional outcome in schizophrenia: a longitudinal, four-year study of first-episode psychosis. Schizophr Res. 2009;107:55–60.
pubmed: 18793828
pmcid: 2631642
van Winkel R, Myin-Germeys I, De Hert M, Delespaul P, Peuskens J, van Os J. The association between cognition and functional outcome in first-episode patients with schizophrenia: mystery resolved? Acta Psychiatr Scand. 2007;116:119–24.
pubmed: 17650273
Escott-Price V, Bracher-Smith M, Menzies G, Walters J, Kirov G, Owen MJ, et al. Genetic liability to schizophrenia is negatively associated with educational attainment in UK Biobank. Mol Psychiatry. 2019; https://doi.org/10.1038/s41380-018-0328-6 .
Hagenaars SP, Harris SE, Davies G, Hill WD, Liewald DCM, Ritchie SJ, et al. Shared genetic aetiology between cognitive functions and physical and mental health in UK Biobank (N=112151) and 24 GWAS consortia. Mol Psychiatry. 2016;21:1624–32.
pubmed: 26809841
pmcid: 5078856
Wray NR, Ripke S, Mattheisen M, Trzaskowski M, Byrne EM, Abdellaoui A, et al. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nat Genet. 2018;50:668–81.
pubmed: 29700475
pmcid: 5934326
Green EK, Hamshere M, Forty L, Gordon-Smith K, Fraser C, Russell E, et al. Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample. Mol Psychiatry. 2013;18:1302–7.
pubmed: 23070075
Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium. Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Mol Autism. 2017;8:21.
Lee JJ, Wedow R, Okbay A, Kong E, Maghzian O, Zacher M, et al. Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Nat Genet. 2018;50:1112–21.
pubmed: 30038396
pmcid: 6393768
Savage JE, Jansen PR, Stringer S, Watanabe K, Bryois J, De Leeuw CA, et al. Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Nat Genet. 2018;50:912–9.
pubmed: 29942086
pmcid: 6411041
Szatkiewicz JP, O’Dushlaine C, Chen G, Chambert K, Moran JL, Neale BM, et al. Copy number variation in schizophrenia in Sweden. Mol Psychiatry. 2014;19:762–73.
pubmed: 24776740
pmcid: 4271733
Tansey KE, Rees E, Linden DE, Ripke S, Chambert KD, Moran JL, et al. Common alleles contribute to schizophrenia in CNV carriers. Mol Psychiatry. 2016;21:1085–9.
pubmed: 26390827
Genovese G, Fromer M, Stahl EA, Ruderfer DM, Chambert K, Landen M, et al. Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. Nat Neurosci. 2016;19:1433–41.
pubmed: 27694994
pmcid: 5104192
Purcell SM, Moran JL, Fromer M, Ruderfer D, Solovieff N, Roussos P, et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature. 2014;506:185–90.
pubmed: 24463508
pmcid: 4136494
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285–91.
pubmed: 27535533
pmcid: 5018207
Ioannidis JPA. The proposal to lower P value thresholds to .005. JAMA. 2018;319:1429–30.
pubmed: 29566133
Sumiyoshi C, Fujino H, Yamamori H, Kudo N, Azechi H, Fujimoto M, et al. Predicting work outcome in patients with schizophrenia: Influence of IQ decline. Schizophr Res. 2018;201:172–9.
pubmed: 30473032
Barnett JH, Salmond CH, Jones PB, Sahakian BJ. Cognitive reserve in neuropsychiatry. Psychol Med. 2006;36:1053–64.
pubmed: 16854246
Mortensen PB, Pedersen CB, Westergaard T, Wohlfahrt J, Ewald H, Mors O, et al. Effects of family history and place and season of birth on the risk of schizophrenia. N Engl J Med. 1999;340:603–8.
pubmed: 10029644
Murray RM, Van OsJ. Predictors of outcome in schizophrenia. J Clin Psychopharmacol. 1998;18:2S–4S.
pubmed: 9555609
Hunt SC, Williams RR, Barlow GK. A comparison of positive family history definitions for defining risk of future disease. J Chronic Dis. 1986;39:809–21.
pubmed: 3760109
McCutcheon R, Beck K, D’Ambrosio E, Donocik J, Gobjila C, Jauhar S, et al. Antipsychotic plasma levels in the assessment of poor treatment response in schizophrenia. Acta Psychiatr Scand. 2018;137:39–46.
pubmed: 29072776