Source:http://linkedlifedata.com/resource/pubmed/id/16118784
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
2005-10-26
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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.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/ARVCF protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Armadillo Domain Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Catechol O-Methyltransferase,
http://linkedlifedata.com/resource/pubmed/chemical/Cell Adhesion Molecules,
http://linkedlifedata.com/resource/pubmed/chemical/Phosphoproteins
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1552-4841
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pubmed:author |
pubmed-author:ApterAlanA,
pubmed-author:BennerAxelA,
pubmed-author:CarelCynthiaC,
pubmed-author:DanzigerYardenaY,
pubmed-author:FennigSilvanaS,
pubmed-author:FrischAmosA,
pubmed-author:KlauckSabine MSM,
pubmed-author:LeorShaniS,
pubmed-author:MichaelovskyElenaE,
pubmed-author:MimouniMarcM,
pubmed-author:PoustkaAnnemarieA,
pubmed-author:SteinDanielD,
pubmed-author:WeizmanAbrahamA
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pubmed:copyrightInfo |
(c) 2005 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
5
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pubmed:volume |
139B
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
45-50
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pubmed:dateRevised |
2008-5-21
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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
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pubmed:year |
2005
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pubmed:articleTitle |
Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios.
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pubmed:affiliation |
Felsenstein Medical Research Center, Rabin Medical Center, Petah-Tikva, Israel.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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