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Titolo:
Polymorphism in SNAP29 gene promoter region associated with schizophrenia
Autore:
Saito, T; Guan, F; Papolos, DF; Rajouria, N; Fann, CSJ; Lachman, HM;
Indirizzi:
Albert Einstein Coll Med, Div Psychiat Res, Dept Psychiat, Bronx, NY 10461USA Albert Einstein Coll Med Bronx NY USA 10461 Psychiat, Bronx, NY 10461USA
Titolo Testata:
MOLECULAR PSYCHIATRY
fascicolo: 2, volume: 6, anno: 2001,
pagine: 193 - 201
SICI:
1359-4184(200103)6:2<193:PISGPR>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
CARDIO-FACIAL-SYNDROME; BIPOLAR AFFECTIVE-DISORDER; O-METHYLTRANSFERASE GENE; FUNCTIONAL POLYMORPHISM; MOLECULAR DEFINITION; LEARNING-DISABILITY; POTENTIAL LINKAGE; 22Q11 DELETIONS; SNARE COMPLEX; LOCUS;
Keywords:
synaptic vesicle; SNARE; SNP; bipolar disorder; chromosome 22;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
71
Recensione:
Indirizzi per estratti:
Indirizzo: Lachman, HM Albert Einstein Coll Med, Div Psychiat Res, Dept Psychiat, 1300 Morris Pk Ave, Bronx, NY 10461 USA Albert Einstein Coll Med 1300 Morris Pk Ave Bronx NY USA 10461
Citazione:
T. Saito et al., "Polymorphism in SNAP29 gene promoter region associated with schizophrenia", MOL PSYCHI, 6(2), 2001, pp. 193-201

Abstract

Linkage studies indicate that chromosome 22q contains a locus, or loci, for schizophrenia (SZ) and bipolar disorder (BPD), Furthermore, the congenital disorder velo cardio facial syndrome (VCFS), which is usually caused by a22q11 microdeletion, is associated with an increased prevalence of psychiatric disease, including SZ and BPD, One plausible candidate gene that maps to 22q11, in a region deleted in the most common form of VCFS, is SNAP29, amember of the SNAP-25 family of SNARE proteins. To search for possible functional mutations in SNAP29 that could be analyzed as candidates for 22q11-linked psychiatric problems, exons, intron-exon junctions and the promoter region were screened. No coding variants were found, although a silent mutation at codon 6 and three single nucleotide polymorphisms (SNPs) were identified in the 5' untranslated and promoter regions. One SNP, an A-->G transition 849 nucleotides upstream of the transcription start site, showed a moderately significant difference in the distribution of alleles and genotypesin patients with SZ compared with controls (allele frequency: chi (2) = 5.57, 1 df, P = 0.018; genotype: chi (2) = 9,49, 2 df, P = 0.009; odds ratio = 1.59, 95% Cl = 1.08-2.34). No significant difference was found in patients with BPD, Although the functional significance of this mutation is not known, the tetranucleotide core sequence of the ets and IK2 families of transcription factors is altered as a result of the SNP, These data suggest thata mutation in the SNAP29 gene promoter region, or a mutation in linkage disequilibrium with the promoter SNP, may be involved in the pathogenesis of chromosome 22-linked SZ.

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Documento generato il 06/07/20 alle ore 05:50:18