Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases.
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 RARbeta, RARgamma, and RXRgamma genes. We conclude that structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia.
Feng
Jinong
J
Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010-3000, USA.
Chen
Jiesheng
J
Yan
Jin
J
Jones
Ian R
IR
Craddock
Nick
N
Cook
Edwin H
EH
Goldman
David
D
Heston
Leonard L
LL
Sommer
Steve S
SS
D000437:Alcoholism / Q000235:genetics; D000595:Amino Acid Sequence; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D001321:Autistic Disorder / Q000235:genetics; D001714:Bipolar Disorder / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D001523:Mental Disorders / Q000235:genetics*; D009154:Mutation; D057126:Nuclear Receptor Subfamily 4, Group A, Member 2; D020033:Protein Isoforms / Q000235:genetics; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D047488:Retinoid X Receptors / Q000235:genetics; D012559:Schizophrenia / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000235:genetics
D004268:DNA-Binding Proteins; C539882:NR4A2 protein, human; D057126:Nuclear Receptor Subfamily 4, Group A, Member 2; D020033:Protein Isoforms; D018168:Receptors, Retinoic Acid; D047488:Retinoid X Receptors; D014157:Transcription Factors; D004247:DNA