Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept

Hamshere, Marian L.; Green, E. K.; Jones, Ian; Jones, Lisa; Moskvina, Valentina; Kirov, George; Grozeva, Detelina; Nikolov, Ivan; Vukcevic, Damjan; Caesar, Sian; Gordon‐Smith, Katherine; Fraser, Christine; Russell, Elen; Breen, Gerome; Clair, David St; Collier, David; Young, Allan H.; Ferrier, I. Nicol; Farmer, Anne; McGuffin, Peter; Holmans, Peter Alan; Owen, Michael John; O'Donovan, Michael Conlon; Craddock, Nick

doi:10.1192/bjp.bp.108.061424

Cited by 89 publications

(71 citation statements)

References 32 publications

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“…Hamshere maintains "cases with a rich mixture of clinical features of bipolar mood episodes and the psychotic symptoms typical of schizophrenia (a broadly defined schizoaffective illness) may be particularly useful for genetic studies" 48 . Defining accurate phenotypes in psychiatric genetics is important for future research in disentangling the ethiopathogenesis of these illnesses.…”

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confidence: 99%

Unipolar mania reconsidered evidence from a South African study

Grobler¹,

Jl²

2014

Afr J Psychiatry

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Objective: There is a lack of studies that examine prevalence and phenomenology of bipolar disorder in Africa. In literature, a unipolar manic course of illness in particular is reported to be rare. The purpose of this study was to investigate and describe the course of illness and clinical features for a cross-section of patients diagnosed with bipolar disorder attending public hospitals in Limpopo Province, South Africa and to determine the rate of a unipolar manic course in this sample of patients. Method: This was a descriptive, cross-sectional study of patients presenting with a history of mania between October 2009 and April 2010, to three hospitals in Limpopo Province. A purposeful sample of 103 patients was recruited and interviewed using the Affective Disorders Evaluation. Results: This study confirms that a unipolar manic course is indeed much more common than occurrences suggested in present day literature, with 57% of the study sample ever experiencing manic episodes. Patients presenting with a unipolar manic course of illness, as described in this study, may contribute to the search for an etiologically homogeneous sub-group, which presents a unique phenotype for genetic research and the search for genetic markers in mental illness. With a view to future research, a unipolar manic course therefore needs to be considered as a specifier in diagnostic systems in order to increase the awareness of such a course of illness in bipolar disorder. Conclusion: Fifty seven percent (57%) of study subjects had only ever experienced manic episodes, which is in keeping with findings from Africa and other non-Western countries. Identifying etiologically homogenous subgroups in psychiatry can also aid the profession in developing a reliable and valid nosology for psychiatric disorders. We need to consider a unipolar manic course at least a specifier in DSM and ICD.

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confidence: 99%

Unipolar mania reconsidered evidence from a South African study

Grobler¹,

Jl²

2014

Afr J Psychiatry

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“…W genomie człowieka określono geny kodujące receptory kainianowe GluR6 (GIRK2) jako potencjalnie uwraż-liwiające organizm na rozwój dwubiegunowych chorób afektywnych (16). Usunięcie genu podjednostki GluR6 u myszy spowodowało zmiany zachowania podobne manii.…”

Section: Receptory Kainianowe I Receptory Deltaunclassified

Role of L-glutamate in aggression

Kania¹,

Wrońska²

2016

Medycyna Weterynaryjna

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Summary L-glutamate is one of major excitatory transmitters (along with aspartic, kainate acids and glycine) in the central nervous system and/or the peripheral nervous system. It mediates interaction through the stimulation of various ionotropic receptors families (ligand gated cation channels) and metabotropic receptor families (G-protein coupled). In this review, we describe the molecular composition of these glutamatergic receptors and discuss their neuropharmacology, particularly with respect to their roles in animal social behaviors and, particularly, in aggression. It is also known, that during aggression different interactions occur in the nervous system among glutamate, serotonin, vasopressin, oxytocin, dopamine, GABA and steroid receptors.

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“…Further recent association studies provide evidence for relatively specific associations between GABA A receptor gene variants and schizoaffective disorder, bipolar type [133,134], as well as for the general utility of this schizoaffective subtype for picking up GWAS association signals [135]. Thus, while the twin study evidence points to schizoaffective disorder as being due to the co-occurrence of elevated genetic liability to schizophrenia and mania, if the results for GABA A are further substantiated, it would bolster the case for regarding schizoaffective disorder, bipolar subtype, as a partly independent disorder.…”

Section: Schizoaffective Disordermentioning

confidence: 99%

Genetics of Schizophrenia and other Psychotic Disorders

Pepper¹,

Cardno²

2014

CPSR

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Abstract:Research into the genetic basis of schizophrenia is advancing rapidly. This review gives a broad overview of results from successive phases of studies in this field, linking these with recent findings and likely future research directions. Among recent findings, large-scale epidemiological studies based on Scandinavian population registers, have provided further evidence of substantial heritability and evidence that a wide range of psychotic and non-psychotic disorders partly share genetic risk factors with schizophrenia. In molecular genetics, large collaborative genomewide association studies (GWAS) are providing evidence of common risk variants, each of small effect, and many more variants are likely to be found as samples sizes increase further. A range of rarer chromosomal copy number variants (CNVs) have been associated with schizophrenia, and both GWAS and CNV studies have provided molecular evidence of genetic overlap between schizophrenia and other disorders. There is increasing interest in phenotypes beyond diagnosis, including further clinical variables and endophenotypes. Next-generation sequencing studies are beginning, with the potential for fast, inexpensive sequencing of the whole genome in large samples, and there is an increasing focus on the functional effects of the candidate risk variants that are being identified.

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Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept

Cited by 89 publications

References 32 publications

Unipolar mania reconsidered evidence from a South African study

Unipolar mania reconsidered evidence from a South African study

Role of L-glutamate in aggression

Genetics of Schizophrenia and other Psychotic Disorders

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