A highly significant association between a COMT haplotype and schizophrenia

Détails

ID Serval
serval:BIB_529C2A789D1A
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
A highly significant association between a COMT haplotype and schizophrenia
Périodique
American Journal of Human Genetics
Auteur⸱e⸱s
Shifman  S., Bronstein  M., Sternfeld  M., Pisante-Shalom  A., Lev-Lehman  E., Weizman  A., Reznik  I., Spivak  B., Grisaru  N., Karp  L., Schiffer  R., Kotler  M., Strous  R. D., Swartz-Vanetik  M., Knobler  H. Y., Shinar  E., Beckmann  J. S., Yakir  B., Risch  N., Zak  N. B., Darvasi  A.
ISSN
0002-9297 (Print)
Statut éditorial
Publié
Date de publication
12/2002
Volume
71
Numéro
6
Pages
1296-302
Notes
Journal Article --- Old month value: Dec
Résumé
Several lines of evidence have placed the catechol-O-methyltransferase (COMT) gene in the limelight as a candidate gene for schizophrenia. One of these is its biochemical function in metabolism of catecholamine neurotransmitters; another is the microdeletion, on chromosome 22q11, that includes the COMT gene and causes velocardiofacial syndrome, a syndrome associated with a high rate of psychosis, particularly schizophrenia. The interest in the COMT gene as a candidate risk factor for schizophrenia has led to numerous linkage and association analyses. These, however, have failed to produce any conclusive result. Here we report an efficient approach to gene discovery. The approach consists of (i) a large sample size-to our knowledge, the present study is the largest case-control study performed to date in schizophrenia; (ii) the use of Ashkenazi Jews, a well defined homogeneous population; and (iii) a stepwise procedure in which several single nucleotide polymorphisms (SNPs) are scanned in DNA pools, followed by individual genotyping and haplotype analysis of the relevant SNPs. We found a highly significant association between schizophrenia and a COMT haplotype (P=9.5x10-8). The approach presented can be widely implemented for the genetic dissection of other common diseases.
Mots-clé
Case-Control Studies Catechol O-Methyltransferase/*genetics Female Founder Effect Gene Frequency *Genetic Predisposition to Disease Haplotypes/*genetics Humans Jews/*genetics Linkage Disequilibrium Male Polymorphism, Single Nucleotide/*genetics Research Design Sample Size Schizophrenia/*genetics Sex Characteristics
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 16:18
Dernière modification de la notice
20/08/2019 14:08
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