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Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases
Author(s) -
Feng Jig,
Chen Jiesheng,
Yan Jin,
Jones Ian R.,
Craddock Nick,
Cook Edwin H.,
Goldman David,
Heston Leonard L.,
Sommer Steve S.
Publication year - 2005
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30113
Subject(s) - schizophrenia (object oriented programming) , retinoid x receptor , gene , genetics , autism , retinoid x receptor alpha , retinoid , missense mutation , biology , medicine , psychiatry , nuclear receptor , mutation , transcription factor , retinoic acid
Retinoid receptors (RARs and RXRs) regulate brain morphogenesis and function. Defects in these receptors may contribute to schizophrenia or other psychiatric diseases. To test the hypothesis that genetic variants of the retinoid receptor genes may predispose to schizophrenia and other psychiatric diseases, the six RAR and RXR genes and a heterodimer partner, the NURR1 gene, were scanned in 100 schizophrenia patients, along with pilot studies in 20–24 patients with bipolar disorder (BPD), attention‐deficit hyperactivity disorder (ADHD), autism, or alcoholism. A total of 5.4 megabases of genomic sequence was scanned. No variants affecting protein structure or expression (VAPSEs) were found in four of the genes. One uncommon missense variant was found in each of the RARβ , RARγ , and RXRγ genes. We conclude that structural variants in the RAR / RXR and NURR1 genes do not play a major role in the etiology of schizophrenia. © 2004 Wiley‐Liss, Inc.