Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2005-10-26
pubmed:abstractText
Anorexia nervosa (AN) is a severe and complex psychiatric disorder with a significant genetic contribution. Previously, we found an association between AN and the 158Val/Met polymorphism of the catechol-O-methyltransferase (COMT) gene in a family-based study of 51 Israeli AN trios. In the present study, we extended the original sample to include 85 family trios [66 AN restricting (AN-R) and 19 bingeing/purging (AN-BP) subtype] and performed a family-based transmission disequilibrium test (TDT) analysis for five SNPs in the COMT and two in the adjacent ARVCF gene. Association was found between AN-R and several SNPs in the COMT-ARVCF region including the 158Val/Met polymorphism. TDT analysis of 5-SNP haplotypes in AN-R trios revealed an overall statistically significant transmission disequilibrium (P < 0.001). Specifically, haplotype B [COMT-186C-408G-472G(158Val)-ARVCF-659C(220Pro)-524T(175Val)] was preferentially transmitted (P < 0.001) from parents of AN-R patients to their affected daughters, while haplotype A [COMT-186T-408C-472A(158Met)-ARVCF-659T(220Leu)-524C(175Ala)] was preferentially (P = 0.01) not transmitted. Haplotype B was associated with increased risk (RR 3.38; 0.95CI 1.98-6.43) while haplotype A exhibited a protective effect (RR 0.40; 0.95CI 0.21-0.70) for AN-R. Preferential transmission of the risk alleles and haplotypes from the parents was mostly contributed by the fathers. No significant transmission disequilibrium of alleles or haplotypes was found for AN-BP trios. The risk and protective haplotypes may carry molecular variations in the COMT gene or its vicinity that are relevant to the pathophysiology of restrictive anorexia nervosa in the Israeli-Jewish population.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1552-4841
pubmed:author
pubmed:copyrightInfo
(c) 2005 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
5
pubmed:volume
139B
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
45-50
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed-meshheading:16118784-Adolescent, pubmed-meshheading:16118784-Adult, pubmed-meshheading:16118784-Anorexia Nervosa, pubmed-meshheading:16118784-Armadillo Domain Proteins, pubmed-meshheading:16118784-Catechol O-Methyltransferase, pubmed-meshheading:16118784-Cell Adhesion Molecules, pubmed-meshheading:16118784-Child, pubmed-meshheading:16118784-Female, pubmed-meshheading:16118784-Genetic Predisposition to Disease, pubmed-meshheading:16118784-Haplotypes, pubmed-meshheading:16118784-Humans, pubmed-meshheading:16118784-Israel, pubmed-meshheading:16118784-Jews, pubmed-meshheading:16118784-Linkage Disequilibrium, pubmed-meshheading:16118784-Male, pubmed-meshheading:16118784-Phosphoproteins, pubmed-meshheading:16118784-Polymorphism, Single Nucleotide, pubmed-meshheading:16118784-Risk Factors
pubmed:year
2005
pubmed:articleTitle
Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios.
pubmed:affiliation
Felsenstein Medical Research Center, Rabin Medical Center, Petah-Tikva, Israel.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't