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Analysis Of TBX1 Variation In Patients With Psychotic And Affective Disorders.

Funke BH, Lencz T, Finn CT, Derosse P, Poznik GD, Plocik AM, Kane J, Gregersen P, Rogus J, Malhotra AK, Kucherlapati R

Harvard Partners Center for Genetics and Genomics, Boston.

A significant portion of patients with 22q11 deletion syndrome (22q11DS) develop psychiatric disorders including schizophrenia and other psychotic and affective symptoms, and it is assumed that the responsible gene/s also play a significant role in the etiology of nonsyndromic psychiatric disease. The most common psychiatric diagnosis among patients with 22q11DS is schizophrenia, which is thought to be the result of neurotransmitter imbalances, but also of disturbed brain development. Several genes in the 22q11 region with known or suspected roles in neurotransmitter metabolism have been analyzed in patients with isolated schizophrenia, however, their contribution remains controversial. Haploinsufficiency of the TBX1 gene has been shown to be sufficient to cause the core physical malformations associated with 22q11DS in mice and humans and could contribute to 22q11DS related and isolated psychiatric disease via abnormal brain development.Besides schizophrenia, increased rates of additional psychiatric conditions including mood disorders have been described in 22q11DS populations. We therefore analyzed variation at the TBX1 locus in a cohort of 446 Caucasian patients with psychiatric disorders relevant to 22q11DS and 436 ethnically matched controls. The main diagnoses included schizophrenia (SCZ, n=226), schizoaffective disorder (SA, n=67), bipolar disorder (BP, n=82) and major depressive disorder (MDD, n=29). We genotyped nine tag SNPs in this sample but did not observe significant differences in allele or haplotype frequencies in any of the analyzed groups (all affecteds, SCZ+SA, SCZ alone and BP+MDD) compared with the control group. Based on these results we conclude that TBX1 variation does not make a strong contribution to the genetic etiology of nonsyndromic forms of psychiatric disorders commonly seen in patients with 22q11DS.

Published 11 July 2007 in Mol Med.
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