COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

Doron Gothelf; Stephan Eliez; Tracy Thompson; Christine Hinard; Lauren Penniman; Carl Feinstein; Hower Kwon; Shuting Jin; Booil Jo; Stylianos E. Antonarakis; Michael A. Morris; Allan L. Reiss

doi:10.1038/nn1572

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

Doron Gothelf, Stephan Eliez, Tracy Thompson, Christine Hinard, Lauren Penniman, Carl Feinstein, Hower Kwon, Shuting Jin, Booil Jo, Stylianos E. Antonarakis, Michael A. Morris, Allan L. Reiss^*

^*Corresponding author for this work

Psychiatry

Research output: Contribution to journal › Article › peer-review

284 Scopus citations

Abstract

Although schizophrenia is strongly hereditary, there are limited data regarding biological risk factors and pathophysiological processes. In this longitudinal study of adolescents with 22q11.2 deletion syndrome, we identified the catechol-O-methyltransferase low-activity allele (COMT^L) as a risk factor for decline in prefrontal cortical volume and cognition, as well as for the consequent development of psychotic symptoms during adolescence. The 22q11.2 deletion syndrome is a promising model for identifying biomarkers related to the development of schizophrenia.

Original language	English
Pages (from-to)	1500-1502
Number of pages	3
Journal	Nature Neuroscience
Volume	8
Issue number	11
DOIs	https://doi.org/10.1038/nn1572
State	Published - Nov 2005

Funding

Funders	Funder number
Child Care’ Foundation
European Union Federal Office of Education
US National Institutes
National Institute of Mental Health	R01MH050047
Eunice Kennedy Shriver National Institute of Child Health and Human Development	R01HD031715
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

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title = "COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome",

abstract = "Although schizophrenia is strongly hereditary, there are limited data regarding biological risk factors and pathophysiological processes. In this longitudinal study of adolescents with 22q11.2 deletion syndrome, we identified the catechol-O-methyltransferase low-activity allele (COMTL) as a risk factor for decline in prefrontal cortical volume and cognition, as well as for the consequent development of psychotic symptoms during adolescence. The 22q11.2 deletion syndrome is a promising model for identifying biomarkers related to the development of schizophrenia.",

author = "Doron Gothelf and Stephan Eliez and Tracy Thompson and Christine Hinard and Lauren Penniman and Carl Feinstein and Hower Kwon and Shuting Jin and Booil Jo and Antonarakis, {Stylianos E.} and Morris, {Michael A.} and Reiss, {Allan L.}",

note = "Funding Information: We thank L. Xiaoyan and J.F. Hallmayer for DNA extraction, and J. Keller for cognitive assessments. This work was supported by US National Institutes Funding Information: of Health grants MH50047, HD31715 and MH19908 (A.L.R.) and by the Swiss National Science Foundation, the European Union Federal Office of Education and the {\textquoteleft}Child Care{\textquoteright} Foundation (S.E.A.).",

year = "2005",

month = nov,

doi = "10.1038/nn1572",

language = "אנגלית",

volume = "8",

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T1 - COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

AU - Gothelf, Doron

AU - Eliez, Stephan

AU - Thompson, Tracy

AU - Hinard, Christine

AU - Penniman, Lauren

AU - Feinstein, Carl

AU - Kwon, Hower

AU - Jin, Shuting

AU - Jo, Booil

AU - Antonarakis, Stylianos E.

AU - Morris, Michael A.

AU - Reiss, Allan L.

N1 - Funding Information: We thank L. Xiaoyan and J.F. Hallmayer for DNA extraction, and J. Keller for cognitive assessments. This work was supported by US National Institutes Funding Information: of Health grants MH50047, HD31715 and MH19908 (A.L.R.) and by the Swiss National Science Foundation, the European Union Federal Office of Education and the ‘Child Care’ Foundation (S.E.A.).

PY - 2005/11

Y1 - 2005/11

N2 - Although schizophrenia is strongly hereditary, there are limited data regarding biological risk factors and pathophysiological processes. In this longitudinal study of adolescents with 22q11.2 deletion syndrome, we identified the catechol-O-methyltransferase low-activity allele (COMTL) as a risk factor for decline in prefrontal cortical volume and cognition, as well as for the consequent development of psychotic symptoms during adolescence. The 22q11.2 deletion syndrome is a promising model for identifying biomarkers related to the development of schizophrenia.

AB - Although schizophrenia is strongly hereditary, there are limited data regarding biological risk factors and pathophysiological processes. In this longitudinal study of adolescents with 22q11.2 deletion syndrome, we identified the catechol-O-methyltransferase low-activity allele (COMTL) as a risk factor for decline in prefrontal cortical volume and cognition, as well as for the consequent development of psychotic symptoms during adolescence. The 22q11.2 deletion syndrome is a promising model for identifying biomarkers related to the development of schizophrenia.

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COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

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