Keine Assoziation des - 141C-Ins/Del-Polymorphismus im Gen des Dopaminrezeptor D₂ mit Schizophrenie

Zusammenfassung

Im Gen des Dopamin-D₂-Rezeptors wurde kürzlich der funktionelle - 141C-Ins/Del-Polymorphismus entdeckt, dessen Ins-Allel mit Schizophrenie assoziiert wurde. Die vorliegende Arbeit untersuchte, ob eine Assoziation auch in deutschen Kernfamilien (Trios) nachzuweisen war. 190 Trios von schizophrenen Patienten wurden bezüglich des Ins/Del-Genotyp untersucht. Parallel wurden 268 schizophrene Patienten und 244 Kontrollen analysiert. Weder der Trioansatz (TDT = 0,152, p = 0,696) noch die fallkontrollierte Studie (p = 0,124) wiesen eine Assoziation des Ins-Allels mit Schizophrenie nach. Der - 141C-Ins/Del-Polymorphismus ist kein bedeutender Vulnerabililtätslokus für Schizophrenie.

Abstract

Recently, a putative functional polymorphism (- 141C Ins/Del) in the 5′-flanking region of the dopamine D₂ receptor was found. An association of the Ins allele with schizophrenia has been described in a Japanese sample. In the present study this association was examined in a German schizophrenia patient population. In a family based approach 190 German family trios were analyzed for the - 141C Ins/Del genotype. Using the transmission disequilibrium test (TDT) we found no evidence for an association of the Ins allele with schizophrenia (TDT = 0.152, P = 0.696). In parallel, we performed an independent case control study with 268 schizophrenic patients and 244 controls. Again, we did not detect an overrepresentation of the Ins allele in patients (P = 0.124). Thus, our data do not support the hypothesis that the - 141C Ins variant plays a major role in predisposition to schizophrenia. To confirm our conclusion further preferentially family based studies are needed.

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