scholarly journals Contribution of rare copy number variants to bipolar disorder risk is limited to schizoaffective cases

2018 ◽  
Author(s):  
Alexander W. Charney ◽  
Eli A. Stahl ◽  
Elaine K. Green ◽  
Chia-Yen Chen ◽  
Jennifer L. Moran ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Copy Number ◽  
Psychiatric Symptoms ◽  
Copy Number Variants ◽  
Risk Scores ◽  
P Value ◽  
Bipolar Ii Disorder ◽  
Common Genetic Variants ◽  
Bipolar Ii ◽  
Bipolar Type

AbstractBackgroundGenetic risk for bipolar disorder (BD) is conferred through many common alleles, while a role for rare copy number variants (CNVs) is less clear. BD subtypes schizoaffective disorder bipolar type (SAB), bipolar I disorder (BD I) and bipolar II disorder (BD II) differ according to the prominence and timing of psychosis, mania and depression. The factors contributing to the combination of symptoms within a given patient are poorly understood.MethodsRare, large CNVs were analyzed in 6353 BD cases (3833 BD I [2676 with psychosis, 850 without psychosis], 1436 BD II, 579 SAB) and 8656 controls. Measures of CNV burden were integrated with polygenic risk scores (PRS) for schizophrenia (SCZ) to evaluate the relative contributions of rare and common variants to psychosis risk.ResultsCNV burden did not differ in BD relative to controls when treated as a single diagnostic entity. Burden in SAB was increased compared to controls (p-value = 0.001), BD I (p-value = 0.0003) and BD II (p-value = 0.0007). Burden and SCZ PRS were higher in SAB compared to BD I with psychosis (CNV p-value = 0.0007, PRS p-value = 0.004) and BD I without psychosis (CNV p-value = 0.0004, PRS p-value = 3.9 × 10−5). Within BD I, psychosis was associated with higher SCZ PRS (p-value = 0.005) but not with CNV burden.ConclusionsCNV burden in BD is limited to SAB. Rare and common genetic variants may contribute differently to risk for psychosis and perhaps other classes of psychiatric symptoms.

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

2009 ◽  
Vol 195 (1) ◽  
pp. 23-29 ◽  
Author(s):  
M. L. Hamshere ◽  
E. K. Green ◽  
I. R. Jones ◽  
L. Jones ◽  
V. Moskvina ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Schizoaffective Disorder ◽  
Case Control ◽  
Data Set ◽  
Bipolar Ii Disorder ◽  
Diagnostic Categories ◽  
Genome Wide ◽  
Bipolar Ii ◽  
Bipolar Type ◽  
Association Data

BackgroundPsychiatric phenotypes are currently defined according to sets of descriptive criteria. Although many of these phenotypes are heritable, it would be useful to know whether any of the various diagnostic categories in current use identify cases that are particularly helpful for biological–genetic research.AimsTo use genome-wide genetic association data to explore the relative genetic utility of seven different descriptive operational diagnostic categories relevant to bipolar illness within a large UK case–control bipolar disorder sample.MethodWe analysed our previously published Wellcome Trust Case Control Consortium (WTCCC) bipolar disorder genome-wide association data-set, comprising 1868 individuals with bipolar disorder and 2938 controls genotyped for 276 122 single nucleotide polymorphisms (SNPs) that met stringent criteria for genotype quality. For each SNP we performed a test of association (bipolar disorder group v. control group) and used the number of associated independent SNPs statistically significant at P<0.00001 as a metric for the overall genetic signal in the sample. We next compared this metric with that obtained using each of seven diagnostic subsets of the group with bipolar disorder: Research Diagnostic Criteria (RDC): bipolar I disorder; manic disorder; bipolar II disorder; schizoaffective disorder, bipolar type; DSM–IV: bipolar I disorder; bipolar II disorder; schizoaffective disorder, bipolar type.ResultsThe RDC schizoaffective disorder, bipolar type (v. controls) stood out from the other diagnostic subsets as having a significant excess of independent association signals (P<0.003) compared with that expected in samples of the same size selected randomly from the total bipolar disorder group data-set. The strongest association in this subset of participants with bipolar disorder was at rs4818065 (P = 2.42 × 10–7). Biological systems implicated included gamma amniobutyric acid (GABA)A receptors. Genes having at least one associated polymorphism at P<10–4 included B3GALTS, A2BP1, GABRB1, AUTS2, BSN, PTPRG, GIRK2 and CDH12.ConclusionsOur findings show that individuals with broadly defined bipolar schizoaffective features have either a particularly strong genetic contribution or that, as a group, are genetically more homogeneous than the other phenotypes tested. The results point to the importance of using diagnostic approaches that recognise this group of individuals. Our approach can be applied to similar data-sets for other psychiatric and non-psychiatric phenotypes.

Polarised views about bipolar disorder(s): A critique of the 2020 College guidelines for mood disorders

2021 ◽  
pp. 000486742110200
Author(s):  
Gordon Parker
Keyword(s):  
Bipolar Disorder ◽  
Mood Disorders ◽  
International Classification Of Diseases ◽  
Bipolar Ii Disorder ◽  
Statistical Manual ◽  
Diagnostic And Statistical Manual ◽  
Bipolar Ii ◽  
Classification Of Diseases ◽  
Formal Status

The 2020 College guidelines for mood disorders banish bipolar II disorder – despite its formal status in Diagnostic and Statistical Manual of Mental Disorders and International Classification of Diseases manuals for more than two decades – and argue that there is no need to partition bipolar disorder into separate sub-types. Their single-entity model is seemingly based on opinion rather than any support from referenced scientific studies. The author challenges the Committee’s model of there being only one bipolar disorder and argues that it presents several clinical management risks, particularly of ‘over-treatment’.

scholarly journals Hypomanic Symptoms in Female Undergraduate Students Diagnosed with Unipolar Depression Based on Scores on the Hypomania Checklist

2009 ◽  
Vol 5 (1) ◽  
pp. 22-25 ◽  
Author(s):  
Thomas Richardson ◽  
Hugh Garavan
Keyword(s):  
Bipolar Disorder ◽  
Undergraduate Students ◽  
Unipolar Depression ◽  
Female Undergraduate ◽  
Bipolar Ii Disorder ◽  
Bipolar Ii

Background: A number of studies have documented high levels of hypomanic symptoms in those diagnosed with depression, suggesting a potential misdiagnosis of bipolar disorder as unipolar depression. Research suggests that undergraduate students have high levels of depression, but whether such misdiagnosis occurs in this population has not been examined. The aim of this study was therefore to examine levels of hypomania in undergraduate students reporting diagnosed depression. Methods: An international sample of undergraduate students completed the 32-item Hypomania Checklist (HCL-32). A cohort was analysed for this study, consisting of female undergraduate students reporting a formal diagnosis of depression (n=28). Results: Participants scored high on the HCL-32, with a mean total score of 19.9 (SD=5.4) out of 32. Overall, 85.7% (n=24) scored equal to or above the original cut off point of 14 suggested for bipolar II disorder. Conclusions: Two possible conclusions are suggested by this study. Firstly, there are high levels of hypomanic symptoms in undergraduate students diagnosed with depression, suggesting that a formal diagnosis of bipolar disorder should be pursued in those with high scores. Alternatively, the cut-off points previously suggested for the HCL-32 may not be accurate for use with undergraduate students.

scholarly journals Comparing clinical responses and the biomarkers of BDNF and cytokines between subthreshold bipolar disorder and bipolar II disorder

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Tzu-Yun Wang ◽  
Sheng-Yu Lee ◽  
Shiou-Lan Chen ◽  
Yun-Hsuan Chang ◽  
Liang-Jen Wang ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Bipolar Ii Disorder ◽  
Bipolar Ii ◽  
Clinical Responses

Genetics of Schizophrenia and Bipolar Disorder

2017 ◽  
Author(s):  
Alexander Charney ◽  
Pamela Sklar
Keyword(s):  
Bipolar Disorder ◽  
Copy Number ◽  
Psychotic Disorders ◽  
Copy Number Variants ◽  
Nucleotide Polymorphisms ◽  
Common Variants ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Number Variation

Schizophrenia and bipolar disorder are the classic psychotic disorders. Both diseases are strongly familial, but have proven recalcitrant to genetic methodologies for identifying the etiology until recently. There is now convincing genetic evidence that indicates a contribution of many DNA changes to the risk of becoming ill. For schizophrenia, there are large contributions of rare copy number variants and common single nucleotide variants, with an overall highly polygenic genetic architecture. For bipolar disorder, the role of copy number variation appears to be much less pronounced. Specific common single nucleotide polymorphisms are associated, and there is evidence for polygenicity. Several surprises have emerged from the genetic data that indicate there is significantly more molecular overlap in copy number variants between autism and schizophrenia, and in common variants between schizophrenia and bipolar disorder.

Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families

2020 ◽  
Author(s):  
Sonja LaBianca ◽  
Jette LaBianca ◽  
Anne Katrine Pagsberg ◽  
Klaus Damgaard Jakobsen ◽  
Vivek Appadurai ◽  
...  
Keyword(s):  
Copy Number ◽  
Copy Number Variants ◽  
Risk Scores ◽  
Polygenic Risk ◽  
Need Of Care

scholarly journals Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder

BMC Genetics ◽  
2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Rachel L Kember ◽  
Benjamin Georgi ◽  
Joan E Bailey-Wilson ◽  
Dwight Stambolian ◽  
Steven M Paul ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Copy Number ◽  
Copy Number Variants ◽  
Disease Genes ◽  
Mendelian Disease ◽  
Multigenerational Family

scholarly journals Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder

2011 ◽  
Vol 17 (4) ◽  
pp. 421-432 ◽  
Author(s):  
L Priebe ◽  
F A Degenhardt ◽  
S Herms ◽  
B Haenisch ◽  
M Mattheisen ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Early Onset ◽  
Copy Number ◽  
Copy Number Variants ◽  
Genome Wide ◽  
Genome Wide Survey

Migraine headache and bipolar disorder comorbidity: A systematic review of the literature and clinical implications

2016 ◽  
Vol 11 (1) ◽  
pp. 136-145 ◽  
Author(s):  
Raphael J. Leo ◽  
Joshna Singh
Keyword(s):  
Systematic Review ◽  
Bipolar Disorder ◽  
Migraine Headache ◽  
Unipolar Depression ◽  
Epidemiological Studies ◽  
Prevalence Rates ◽  
Review Of The Literature ◽  
Weighted Mean ◽  
Bipolar Ii Disorder ◽  
Bipolar Ii

AbstractBackground and aimsPsychiatric disorders, e.g., depression, are often comorbid with, and can complicate the treatment of, patients with migraine headache. Although empirical work has increasingly focused on the association between migraine and bipolar disorder, this topic has received little attention in the pain literature. Bipolar disorder is a chronic and recurrent mood disorder characterized by cyclic occurrence of elevated (i.e., manic or hypomanic) and depressed mood states. Bipolar I disorder is diagnosed when patients present with at least one abnormally and persistently elevated manic episode; bipolar II disorder is characterized by the presence of hypomanic episodes. Bipolar disorder warrants attention as depressive phases of the disorder can prevail and are often misconstrued by the unwary clinician as unipolar depression. However, treatment for bipolar disorder is distinct from that of unipolar depression and use of antidepressants, which are often invoked in migraine prophylaxis as well as the treatment of depression, may precipitate significant mood changes among bipolar disorder patients. A systematic review of the literature addressing the co-occurrence of bipolar disorder and migraine was conducted. The treatment of dually affected patients is also discussed.MethodsIn order to review the literature to date on migraine and bipolar disorder co-occurrence, a comprehensive search of MEDLINE, EMBASE, PubMed, PsycINFO, Web of Science, and CINAHL for clinic-based and epidemiological studies was conducted using terms related to migraine and bipolar disorder. Studies were selected for review if they included subjects meeting validated diagnostic criteria for bipolar disorder as well as migraine headache and if a quantitative description of prevalence rates of comorbid bipolar disorder and migraine were reported. Weighted means of the prevalence rates were calculated to compare with general epidemiological prevalence trends for migraine and bipolar disorder, respectively.ResultsEleven studies met inclusion criteria. Although findings were constrained by methodological limitations and several low quality studies, clinic- and epidemiological cross-sectional investigations demonstrated a high rate of comorbidity between bipolar disorder and migraine. The weighted mean prevalence rate for migraine headache among bipolar disorder patients was 30.7%; for bipolar disorder among migraineurs, the weighted mean prevalence rates were 9% and 5.9% in clinic-based and epidemiological studies, respectively. The association between bipolar disorder and migraine was most notable among women and patients with the bipolar II disorder subtype.ConclusionsHigh rates of comorbidity exist between migraine and bipolar disorder, exceeding estimated prevalence rates for those conditions in the general population. Comorbidity may portend a more serious clinical course for dually afflicted individuals.ImplicationsClinicians need to structure treatment approaches to address concurrent migraine and bipolar disorder in dually afflicted individuals. Although further evidence-based investigation is warranted to inform optimal treatment approaches for both conditions concurrently, anticonvulsants (e.g., valproate, lamotrigine and topiramate); atypical antipsychotics (e.g., olanzapine or quetiapine); and calcium channel blockers (e.g., verapamil) may be considered.

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