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Supportive evidence for the association between the T102C 5-HTR2A gene polymorphism and schizophrenia: A large-scale case–control and family-based study

Published online by Cambridge University Press:  16 April 2020

V.E. Golimbet ,
O.M. Lavrushina ,
V.G. Kaleda ,
L.I. Abramova  and
T.V. Lezheiko
V.E. Golimbet*
Affiliation:
Mental Health Research Center, Russian Academy of Medical Sciences, Zagorodnoe sh., 2/2, Moscow, 117152, Russia
O.M. Lavrushina
Affiliation:
Mental Health Research Center, Russian Academy of Medical Sciences, Zagorodnoe sh., 2/2, Moscow, 117152, Russia
V.G. Kaleda
Affiliation:
Mental Health Research Center, Russian Academy of Medical Sciences, Zagorodnoe sh., 2/2, Moscow, 117152, Russia
L.I. Abramova
Affiliation:
Mental Health Research Center, Russian Academy of Medical Sciences, Zagorodnoe sh., 2/2, Moscow, 117152, Russia
T.V. Lezheiko
Affiliation:
Mental Health Research Center, Russian Academy of Medical Sciences, Zagorodnoe sh., 2/2, Moscow, 117152, Russia
*
*Corresponding author. Tel.: +7 (495) 952 9040; fax: +7 (495) 952 8940. E-mail addresses:golimbet@mail.ru (V.E. Golimbet), lavrushina@bk.ru (O.M. Lavrushina), kaleda@mhrc.comcor.ru (V.G. Kaleda), l_abramova@rambler.ru (L.I. Abramova), lezheiko@list.ru (T.V. Lezheiko).
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Abstract

Serotonin type 2A receptors (5-HTR2A) have long been implicated in schizophrenia pathology. A decreased number of these receptors were found in postmortem brain studies of schizophrenic patients as well as in experiments using neuroimaging techniques. Molecular genetic studies revealed that the T102C polymorphism of the 5-HTR2A gene is associated with schizophrenia, with the CC genotype frequency being higher in patients compared to healthy controls. However the association was not confirmed in all studies. We carried out a replication study, which aimed at searching for association between this polymorphism and schizophrenia in a large samples of patients (n = 919), their psychiatrically well first-degree relatives (n = 330) and screened controls (n = 500). The C allele and the CT + CC genotype frequencies were significantly higher in patients than in controls (χ2 = 5.1; df = 1; p = 0.02; OR 1.2, 95% CI 1.0–1.4) and χ2 = 5.4; df = 1; p = 0.02; OR 1.4, 95% CI 1.1–1.8 respectively). In a family-based study, the transmission disequilibrium test (TDT) and the family-based association test (FBAT) did not show a preferential transmission of any allele. In conclusion, our replication study provides further evidence for association between the 5-HTR2A receptor T102C polymorphism and schizophrenia.

Keywords

Gene polymorphismSerotonin 2a receptorSchizophreniaAssociationFamily-based study
Type
Epidemiology and Social Psychiatry
Information
European Psychiatry , Volume 22 , Issue 3 , April 2007 , pp. 167 - 170
Copyright
Copyright © Elsevier Masson SAS 2007

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Footnotes

1

Tel.: +7 (495) 952 9040; fax: +7 (495) 952 8940.

2

Tel.: +7 (495) 117 4753; fax: +7 (495) 952 8940.

3

Tel.: +7 (495) 117 2179; fax: +7 (495) 952 8940.

4

Tel.: +7 (495) 952 8980; fax: +7 (495) 952 8940.

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