Linked Life Data

10357835

Source:http://linkedlifedata.com/resource/pubmed/id/10357835

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1999-7-15
pubmed:abstractText
The apoAI-CIII-AIV gene cluster, located on chromosome 11, contributes to the phenotype of familial combined hyperlipidemia (FCH), but this contribution is genetically complex. Combinations of haplotypes, based on three restriction enzyme polymorphisms: XmnI and MspI sites, 5' of the start site of the apoA-I gene and SstI polymorphism in the 3' untranslated region of exon 4 of the apoC-III gene, were analyzed to characterize their effect on the expression of severe hyperlipidemia. An epistatic interaction was demonstrated: the S2 allele on one haplotype was synergistic in its hyperlipidemic effect to the X2M2 allele on the other haplotype (Dallinga-Thie, G. M. et al. J. Clin. Invest. 1997. 99: 953-961). In the present study two additional polymorphic sites in the insulin response element (IRE) of the apoC-III gene promoter, T-455C: FokI restriction site, C-482T: MspI restriction site, were studied in 34 FCH pedigrees including 34 probands, 220 hyperlipidemic relatives, 300 normolipidemic relatives, and 236 spouses. In contrast to the earlier data for the other polymorphisms in this gene cluster (XmnI, MspI/AI, and SstI), there were no differences in frequency distributions of the T-455C and the C-482T variants between probands, hyperlipidemic and normolipidemic relatives and spouses. No significant associations between plasma lipid traits and DNA variants in the IRE were observed. Analysis of combinations of haplotypes based on the five polymorphisms in the gene cluster provided further evidence for a dominant role of the SstI polymorphism as a major susceptibility locus in FCH. The inclusion of the IRE markers did not improve genetic informativeness, nor our understanding of the observed synergistic relationship associated with the high risk combination of haplotypes in FCH families.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0022-2275
pubmed:author
pubmed:issnType
Print
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1036-44
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:10357835-Adult, pubmed-meshheading:10357835-Apolipoprotein A-I, pubmed-meshheading:10357835-Apolipoprotein C-III, pubmed-meshheading:10357835-Apolipoproteins, pubmed-meshheading:10357835-Apolipoproteins A, pubmed-meshheading:10357835-Apolipoproteins C, pubmed-meshheading:10357835-Female, pubmed-meshheading:10357835-Haplotypes, pubmed-meshheading:10357835-Humans, pubmed-meshheading:10357835-Hyperlipidemia, Familial Combined, pubmed-meshheading:10357835-Insulin, pubmed-meshheading:10357835-Linkage Disequilibrium, pubmed-meshheading:10357835-Lipids, pubmed-meshheading:10357835-Male, pubmed-meshheading:10357835-Middle Aged, pubmed-meshheading:10357835-Multigene Family, pubmed-meshheading:10357835-Phenotype, pubmed-meshheading:10357835-Polymorphism, Genetic, pubmed-meshheading:10357835-Promoter Regions, Genetic, pubmed-meshheading:10357835-Response Elements
pubmed:year
1999
pubmed:articleTitle
Association of plasma lipids and apolipoproteins with the insulin response element in the apoC-III promoter region in familial combined hyperlipidemia.
pubmed:affiliation
Department of Internal Medicine, University Hospital Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't