Analysis of TBX1 variation in patients with psychotic and affective disorders.

Analysis of TBX1 variation in patients with psychotic and affective disorders. Research Abstract Details 

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Analysis of TBX1 variation in patients with psychotic and affective disorders. Abstract Text:

Birgit H Funke,Todd Lencz,Christine T Finn,Pamela DeRosse,G David Poznik,Alex M Plocik,John Kane,John Rogus,Anil K Malhotra,Raju Kucherlapati,

A significant portion of patients with 22q11 deletion syndrome (22q11DS) develop psychiatric disorders, including schizophrenia and other psychotic and affective symptoms, and the responsible gene/s are assumed to also play a significant role in the etiology of nonsyndromic psychiatric disease. The most common psychiatric diagnosis among patients with 22q11DS is schizophrenia, thought to result from neurotransmitter imbalances and also from 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 to the disease 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 via abnormal brain development could contribute to 22q11DS-related and isolated psychiatric disease. 22q11DS populations also have increased rates of psychiatric conditions other than schizophrenia, including mood disorders. We therefore analyzed variations at the TBX1 locus in a cohort of 446 white patients with psychiatric disorders relevant to 22q11DS and 436 ethnically matched controls. The main diagnoses included schizophrenia (n = 226), schizoaffective disorder (n = 67), bipolar disorder (n = 82), and major depressive disorder (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 affected, schizophrenia and schizoaffective disorder, schizophrenia alone, and bipolar disorder and major depressive disorder) 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.

Analysis of TBX1 variation in patients with psychotic and affective disorders. Publishing Authors By Initials

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

For similar proteins: dna-binding proteins: t-box domain proteins research abstracts see: proteins: dna-binding proteins: t-box domain proteins research

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Analysis of TBX1 variation in patients with psychotic and affective disorders. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Molecular medicine (Cambridge, Mass.)

VOLUME: 13

Page Numbers: 407-14

Journal Abbreviation: Mol. Med.

ISSN: 1076-1551

DAY: 3

MONTH: 12

YEAR: 2007

Analysis of TBX1 variation in patients with psychotic and affective disorders. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 9501023

Analysis of TBX1 variation in patients with psychotic and affective disorders. Keywords Mesh Terms:

KEYWORDS: T-Box Domain Proteins

MESH TERMS: genetics

Chemical & Substance for Abstract: Analysis of TBX1 variation in patients with psychotic and affective disorders. Information

Substance Name: TBX1 protein, human

Registry Number: 0

Grant and Affiliation Information for Analysis of TBX1 variation in patients with psychotic and affective disorders.

AFFILIATION: Harvard Partners Center for Genetics and Genomics, Boston, MA 02139, USA. bfunke@partners.org

Country: United States

AGENCY: United States NIMH

GRANT: P30 MH60575

ACRONYM: MH

MEDLINETA: Mol Med

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