Catechol-O-methyl Transferase and Expression of Schizophrenia in 73 Adults with 22q11 Deletion Syndrome

Bassett, Anne S.; Caluseriu, Oana; Weksberg, Rosanna; Young, Donald A.; Chow, Eva W.C.

doi:10.1016/j.biopsych.2006.07.038

Cited by 88 publications

(95 citation statements)

References 40 publications

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“…All studies need replication. found that the lower-activity Met allele was not significantly more prevalent than the Val allele in 33 patients with schizophrenia [36], which was consistent with other studies with fewer affected patients [7,19]. Met COMT hemizygosity is present in about one half of patients with 22qDS (with and without psychotic illness) [36].…”

Section: Linkage and Association Studiessupporting

confidence: 90%

“…found that the lower-activity Met allele was not significantly more prevalent than the Val allele in 33 patients with schizophrenia [36], which was consistent with other studies with fewer affected patients [7,19]. Met COMT hemizygosity is present in about one half of patients with 22qDS (with and without psychotic illness) [36]. Several studies have found no significant differences between Met and Val allele carriers in positive and negative symptom severity [7,36,37].…”

Section: Linkage and Association Studiessupporting

confidence: 87%

“…Met COMT hemizygosity is present in about one half of patients with 22qDS (with and without psychotic illness) [36]. Several studies have found no significant differences between Met and Val allele carriers in positive and negative symptom severity [7,36,37]. The results suggest that the COMT functional allele is not a major factor in schizophrenia expression in 22qDS, similar to findings for schizophrenia in the general population.…”

Section: Linkage and Association Studiessupporting

confidence: 70%

“…In contrast to core symptoms of schizophrenia, COMT Met allele hemizygosity was associated with more severe excitement symptoms (including impulsivity, uncooperativeness, and hostility) and worse performance on frontal cognitive tests, even after accounting for schizophrenic illness effects [36]. These results suggest that hemizygosity of the COMT functional allele may exert a modest effect on some measures of frontal brain functioning in 22qDS, implicating elevated levels of tonic dopamine activation in these aspects of expression, although not in risk for psychosis itself.…”

Section: Association Of 22q112 Genetic Variants and Schizophrenia Inmentioning

confidence: 77%

“…Nine (32.1%) met criteria for a psychotic illness at time 2, including six with schizophrenia or schizoaffective disorder [13]. In contrast to the three cross-sectional studies summarized in the previous section, which had a total sample of 213 mostly adults with 22qDS and found no significant association of the COMT Met allele with psychotic illness [7,19,36], this allele was reported to be associated with the nine patients with psychotic illness in this young cohort [13]. The cohort study also reported that diagnosing a psychotic disorder at follow-up was associated with an average 10-point decline in verbal IQ from baseline and greater severity of parental reports of anxiety or depression and researcher ratings of psychotic symptoms at baseline.…”

Section: Possible Risk and Predictive Factors For Schizophrenia Exprementioning

confidence: 79%

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Schizophrenia and 22q11.2 deletion syndrome

Bassett

Chow²

2008

Curr Psychiatry Rep

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212

166

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Abstract22q11.2 deletion syndrome (22qDS) is a genetic syndrome associated with a chromosome 22q11.2 deletion and variable phenotypic expression that commonly includes schizophrenia. Approximately 1% of patients with schizophrenia have 22qDS. The schizophrenia in 22qDS appears broadly similar to that found in the general population with respect to core signs and symptoms, treatment response, neurocognitive profile, and MRI brain anomalies. However, individuals with a 22qDS form of schizophrenia typically have distinguishable physical features, have a lower IQ, and may differ in auxiliary clinical features. IQ, length of 22q11.2 deletions, and COMT functional allele do not appear to be major risk factors for schizophrenia in 22qDS.Ascertainment biases and small sample sizes are limitations of most studies. Larger studies over the lifespan and continuing education about this underrecognized condition are needed. 22qDS-schizophrenia is an important genetic subtype and a valuable model of neurodevelopmental mechanisms involved in the pathogenesis of schizophrenia.

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Section: Linkage and Association Studiessupporting

confidence: 90%

Section: Linkage and Association Studiessupporting

confidence: 87%

Section: Linkage and Association Studiessupporting

confidence: 70%

Section: Association Of 22q112 Genetic Variants and Schizophrenia Inmentioning

confidence: 77%

Section: Possible Risk and Predictive Factors For Schizophrenia Exprementioning

confidence: 79%

See 3 more Smart Citations

Schizophrenia and 22q11.2 deletion syndrome

Bassett

Chow²

2008

Curr Psychiatry Rep

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212

166

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Schizophrenia and 22q11.2 Deletion Syndrome

Sundram

Murphy

2011

Encyclopedia of Life Sciences

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22q11.2 deletion syndrome (22q11.2DS), also known as velocardiofacial syndrome, is the most frequent known interstitial deletion found in humans. It is associated with high rates of psychiatric disorder and, in particular, schizophrenia (approximately 30%) and schizophrenia‐spectrum disorders. The 22q11.2 region is rich in genes coding for brain development, and consequently, deletion of 22q11.2 provides a useful neurodevelopmental model for understanding the evolution of psychotic disorders in both 22q11.2DS and the nondeleted general population. 22q11.2DS is also associated with significant structural and functional neuroanatomical abnormalities, which underlie the high rates of psychosis seen in affected individuals. Further research is currently underway to determine the cognitive, genetic and neuroanatomical correlates of psychosis seen in the disorder. Key Concepts: 22q11.2DS provides for a genetic and neurodevelopmental model for understanding psychotic disorder seen not only with the syndrome but can also be extrapolated to the general nondeleted population. Although 22q11.2DS is associated with marked phenotypic variability, psychiatric disorder and, in particular, schizophrenia‐spectrum disorders occur in approximately 30% of deleted individuals. Schizophrenia‐spectrum disorders arise as prodromal or subthreshold psychotic symptoms during childhood and adolescence followed by subsequent expression during adulthood where it is largely indistinguishable from the psychosis seen in the nondeleted population. Apart from being the monozygotic co‐twin of a proband with psychosis or being the offspring of parents with schizophrenia, 22q11.2 deletion is the highest known risk factor for the development of schizophrenia.

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