Genetic Analysis of the ZNF804A Gene in Mexican Patients With Schizophrenia, Schizoaffective Disorder and Bipolar Disorder

Abstract Background: Evidence suggests that Schizophrenia (SCZ), Schizoaffective Disorder (SAD) and Bipolar Disorder (BPD) share genetic risk variants. ZNF804A gene has been associated with these disorders in different populations. The aim was to analyze the rs1344706 SNP and identify common and rare variants in a targeted region of the ZNF804A gene in SCZ, BPD and SAD Mexican patients compared with a control group.Methods: We genotyped the rs1344706 in 228 Mexican patients diagnosed with SCZ, SAD and BPD, and 295 controls. An additional sample of 167 patients and 170 controls was analyzed to identify rare and common variants using the Sanger-sequence analysis of a targeted region of ZNF804A gene. Results: We replicated the association between the rs1344706 and SCZ, SAD and BPD. In the sequence analysis, we did not identify rare variants; however, we identified three common variants: rs3046266, rs1366842 and rs12477430. A comparison of the three identified variants between SCZ, SAD and BPD did not show statistical differences. Conclusions: Our findings support the evidence suggesting that ZNF804A gene is involved in the etiology of SZC, SAD and BPD. Future studies are needed to identify the pleiotropic effect of this gene in psychiatric disorders.

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RARE VARIANTS WITHIN LOCI HARBORING COMMON VARIANTS ASSOCIATED WITH BIPOLAR DISORDER AND SCHIZOPHRENIA: FURTHER ELUCIDATING THE GENETIC ARCHITECTURE OF SEVERE PSYCHIATRIC ILLNESS

European Neuropsychopharmacology ◽

10.1016/j.euroneuro.2017.08.219 ◽

2019 ◽

Vol 29 ◽

pp. S903-S904

Author(s):

Eva Schulte ◽

Sergi Papiol ◽

Monika Budde ◽

Urs Heilbronner ◽

Susanne Bengesser ◽

...

Keyword(s):

Bipolar Disorder ◽

Psychiatric Illness ◽

Genetic Architecture ◽

Rare Variants ◽

Common Variants

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FC07-01 - Cognitive functions in first episode psychosis

European Psychiatry ◽

10.1016/s0924-9338(11)73550-7 ◽

2011 ◽

Vol 26 (S2) ◽

pp. 1846-1846

Author(s):

H.F. Elsawy ◽

M.A. Abd Elhay ◽

A.B. Abd Elkrem

Keyword(s):

Bipolar Disorder ◽

Schizoaffective Disorder ◽

Cognitive Functions ◽

Wisconsin Card Sorting Test ◽

First Episode ◽

Psychotic Episode ◽

Control Group ◽

Early Stages ◽

First Psychotic Episode ◽

Significant Difference

BackgroundCognitive impairment is recognized as an important feature of psychosis in its early stages and is a determinant of prognosis and management of these disorders.Aim of the studyTo test the cognitive functions in first psychotic episode in patients with disorders of schizophrenia, schizoaffective disorder, bipolar disorder and depression with psychotic disorder and to compare them to controls.Subjects and methodsThe study included 254 patients diagnosed according to Diagnostic and Statistical criteria of Mental disorders, 4th edition (91 schizophrenics, 21 with schizoaffective disorder, 107 with bipolar disorder and 31 with psychotic depression) and experiencing their first psychotic episode. Seventy healthy volunteers matched as regards age and sex with patients were used as controls. All are subjected to cognitive evaluation by Trail Making Test, part B, Wisconsin card sorting test 128, Benton Visual Retention Test and Wechsler Adult Intelligence Test.ResultsAll patients showed significant cognitive deterioration in all tests compared to control group. On comparing patients to each other, there was no significant difference between schizophrenics and patients with bipolar disorder, but both showed marked deterioration in comparison to depressive group.ConclusionCognitive impairments are present in early stages of psychosis and need careful assessment and management.

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A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21

Journal of Psychiatry and Neuroscience ◽

10.1503/jpn.200083 ◽

2021 ◽

Vol 46 (2) ◽

Author(s):

Claudio Toma ◽

Alex D. Shaw ◽

Anna Heath ◽

Kerrie D. Pierce ◽

Philip B. Mitchell ◽

...

Keyword(s):

Bipolar Disorder ◽

Linkage Analysis ◽

Rare Variants ◽

Linkage Signal ◽

Risk Variants ◽

Genome Wide ◽

Whole Exome ◽

Family Based ◽

Coding Variants ◽

Linkage Interval

Background: Bipolar disorder is a highly heritable psychiatric condition for which specific genetic factors remain largely unknown. In the present study, we used combined whole-exome sequencing and linkage analysis to identify risk loci and dissect the contribution of common and rare variants in families with a high density of illness. Methods: Overall, 117 participants from 15 Australian extended families with bipolar disorder (72 with affective disorder, including 50 with bipolar disorder type I or II, 13 with schizoaffective disorder–manic type and 9 with recurrent unipolar disorder) underwent whole-exome sequencing. We performed genome-wide linkage analysis using MERLIN and conditional linkage analysis using LAMP. We assessed the contribution of potentially functional rare variants using a genebased segregation test. Results: We identified a significant linkage peak on chromosome 10q11-q21 (maximal single nucleotide polymorphism = rs10761725; exponential logarithm of the odds [LODexp] = 3.03; empirical p = 0.046). The linkage interval spanned 36 protein-coding genes, including a gene associated with bipolar disorder, ankyrin 3 (ANK3). Conditional linkage analysis showed that common ANK3 risk variants previously identified in genome-wide association studies — or variants in linkage disequilibrium with those variants — did not explain the linkage signal (rs10994397 LOD = 0.63; rs9804190 LOD = 0.04). A family-based segregation test with 34 rare variants from 14 genes under the linkage interval suggested rare variant contributions of 3 brain-expressed genes: NRBF2 (p = 0.005), PCDH15 (p = 0.002) and ANK3 (p = 0.014). Limitations: We did not examine non-coding variants, but they may explain the remaining linkage signal. Conclusion: Combining family-based linkage analysis with next-generation sequencing data is effective for identifying putative disease genes and specific risk variants in complex disorders. We identified rare missense variants in ANK3, PCDH15 and NRBF2 that could confer disease risk, providing valuable targets for functional characterization.

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Genetic Association Analysis Between RNF213 Common Variants and Symptomatic Intracranial Atherosclerotic Stenosis in a Chinese Population

10.21203/rs.3.rs-386088/v1 ◽

2021 ◽

Author(s):

Xi Li ◽

Junyan Wang ◽

Xiaoqing Zhou ◽

Fang Yu ◽

Xianjing Feng ◽

...

Keyword(s):

Chinese Population ◽

Rare Variants ◽

Control Group ◽

Common Mutation ◽

Common Variants ◽

Asian Populations ◽

Intracranial Atherosclerotic Stenosis ◽

Atherosclerotic Stenosis ◽

Chi Squared ◽

The Common

Abstract Background: RNF213 is the gene involved in symptomatic intracranial atherosclerotic stenosis (sICAS). The rare variants of this gene have a significant association with the clinical phenotype of the disease in the East Asian populations. However, the association between the common variants of RNF213 and sICAS has remained unclear. This study investigated the possible association between the common variants of RNF213 and sICAS in the Chinese population. Result: A total of 39 common variants of the RNF213 gene were detected. The chi-squared test revealed two sites (rs8082521 and rs55996424) at which the genotype frequency and the allele frequency were significantly different between the sICAS group and the healthy control group (P-value < 0.05). The haplotype analysis demonstrated that rs55996424 does not have haploids with the other nine SNPs, including rs8082521. Conclusion: The T allele of the RNF213 common mutation rs55996424 increases the risk of sICAS. Compared to females, males are more likely to carry the pathogenic allele.

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Metabolic Syndrome in Patients with Bipolar Disorder Treated with Atypical Antipsychotics, their First Degree Relatives and Control Group

10.26226/morressier.58b2e095d462b8028d892cb7 ◽

2017 ◽

Author(s):

Shahrzad Arya

Keyword(s):

Metabolic Syndrome ◽

Bipolar Disorder ◽

Atypical Antipsychotics ◽

Control Group ◽

First Degree Relatives ◽

And Control

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DSM-III criteria for affective disorders and schizophrenia : A preliminary appraisal using family interview findings

Psychiatry and Psychobiology ◽

10.1017/s0767399x00001723 ◽

1988 ◽

Vol 3 (3) ◽

pp. 159-169

Author(s):

H.G. Pope ◽

B.M. Cohen ◽

J.F. Lipinski ◽

D. Yurgelun-Todd

Keyword(s):

Bipolar Disorder ◽

Affective Disorder ◽

Schizoaffective Disorder ◽

Psychotic Disorders ◽

Diagnostic Interview ◽

Diagnostic Categories ◽

Family Interview ◽

Small Test ◽

Test Retest Reliability ◽

Interview Studies

SummaryWe performed a blind family interview study of 226 first-degree relatives of 63 probands meeting DSM-III criteria for schizophrenia, schizoaffective disorder, and bipolar disorder, as diagnosed by the National Institute ot Mental Health Diagnostic Interview Schedule (DIS). A small test-retest reliability study demonstrated good agreement between the proband interviewer and the principal family interviewer for the major diagnostic categories of psychotic disorders. Excellent compliance was obtained, with 85% of living relatives interviewed personally.Three principal findings emerged front the study. First, as expected, bipolar disorder, as defined by DSM-III, displayed a strong familial comportent, comparable to that found by many studies using criteria other than those of DSM-III. Second, patients meeting DSM-III criteria for schizophrenia and schizoaffective disorder displayed a low familial prevalence of schizophrenia. Although initially suprising, this finding is in agreement with the results of several other recent lantily studies of schizophrenia. Upon comparing our results with those of other recent family studies of schizophrenia, it appears that the familial component in schizophrenia tnay be less than was estimated by earlier studies using older and “broader” definitions of schizophrenia.Third, we found that patients meeting DSM-III criteria for schizophrenia appeared genetically heterogeneous. Those who had displayed a superimposed full affective syndrome at some tinte in the course of their illness, together with those probands meeting DSM-III criteria for schizoaffective disorder, displayed a high familial prevalence of major affective disorder, similar to that found in the families of the bipolar probands. On the other hand, “pure” DSM-III schizophrenie probands, who had never experienced a superimposed full affective syndrome, displayed a low familial prevalence of major affective disorder, similar to that found in the general population. These findings favor the possibility that probands meeting DSM-III criteria for schizophrenia, but displaying a superimposed full affective syndrome, may in sonie cases have a disorder genetically relatcd to major affective disorder.Further prospective family interview studies, using DSM-III criteria and larger samples, will be necessary to test these preliminary impressions.

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Affective Temperaments and Illness Severity in Patients with Bipolar Disorder

Medicina ◽

10.3390/medicina57010054 ◽

2021 ◽

Vol 57 (1) ◽

pp. 54

Author(s):

Mario Luciano ◽

Luca Steardo ◽

Gaia Sampogna ◽

Vito Caivano ◽

Carmen Ciampi ◽

...

Keyword(s):

Quality Of Life ◽

Bipolar Disorder ◽

Protective Factor ◽

Psychiatric Symptoms ◽

Control Group ◽

Term Outcome ◽

Long Term Outcome ◽

Affective Temperaments

Background and objectives: Bipolar disorder (BD) is one of the most burdensome psychiatric illnesses, being associated with a negative long-term outcome and the highest suicide rate. Although affective temperaments can impact on BD long-term outcome, their role remains poorly investigated. The aims of the present study are to describe the clinical characteristics of patients with BD more frequently associated with the different affective temperaments and to assess the relation between affective temperaments and severity of clinical picture in a sample of patients with BD. Materials and Methods: A total of 199 patients have been recruited in the outpatients units of two university sites. Patients’ psychiatric symptoms, affective temperaments, and quality of life were investigated through validated assessment instruments. Results: Predominant cyclothymic and irritable temperaments are associated to higher number of relapses, poorer quality of life, higher rates of aggressive behaviors, and suicide attempts. Conversely, the predominant hyperthymic disposition was a protective factor for several outcome measures, including relapse rate, severity of anxiety, depressive and manic symptoms, suicidality, and earlier age at onset. One limitationo of the present study is that the recruitment took place in two university sites; therefore, our findings cannot be fully generalized to the whole community of BD patients. Other limitations are the lack of a control group and the cross-sectional design of the study. Conclusions: The early identification of affective temperaments can help clinicians to identify those BD patients who are more likely to show a poor long-term outcome. An early screening of affective temperaments can be useful to develop targeted integrated pharmacological and psychosocial interventions.

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The Prevalence of Comorbid Anxiety in Schizophrenia, Schizoaffective Disorder and Bipolar Disorder

Australian & New Zealand Journal of Psychiatry ◽

10.3109/00048679809062708 ◽

1998 ◽

Vol 32 (1) ◽

pp. 67-72 ◽

Cited By ~ 132

Author(s):

Susan J. Cosoff ◽

R. Julian Hafner

Keyword(s):

Bipolar Disorder ◽

Anxiety Disorder ◽

Anxiety Disorders ◽

Schizoaffective Disorder ◽

Psychiatric Symptoms ◽

Psychotic Episode ◽

Obsessive Compulsive ◽

General Anxiety ◽

Admission Rates ◽

Clinical Benefits

Objective: The aim of this study to determine the prevalence of anxiety disorders in publically treated psychiatric inpatients with a DSM-IV diagnosis of schizophrenia, schizoaffective disorder or bipolar disorder. Method: Using the Structured Clinical Interview for DSM-III-R (SCID), 100 consecutive inpatients with a psychotic disorder were examined for the presence or absence of an anxiety disorder. Questionnaire measures of phobias, obsessive-compulsive and general anxiety symptoms were also applied. Results: The prevalences of social phobia (17%), obsessiv-ompulsive disorder (13%) and generalised anxiety disorder in schizophrenia were relatively high, as were prevalences of obsessive-compulsive (30%) and panic disorder (15%) in bipolar disorder. The proportion of subjects with an anxiety disorder (4345%) was almost identical across the three psychoses, with some evidence of gender differences. Although self-ratings of overall psychiatric symptoms were significantly elevated in those with anxiety disorders, hospital admission rates were not. Conclusions: Almost none of those with anxíeGty disorders were being treated for them, primarily because the severity of the acute psychotic illness required full diagnostic and therapeutic attention. Patients were generally discharged as soon as their psychotic episode was resolved, with little recognition of the presence of an anxiety disorder. Given that anxiety disorders are relatively responsive to treatment, greater awareness of their comorbidity with psychosis should yield worthwhile clinical benefits.

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