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Titolo:
Association of plasma lipids and apolipoproteins with the insulin responseelement in the apoC-III promoter region in familial combined hyperlipidemia
Autore:
Groenendijk, M; Cantor, RM; Blom, NHHC; Rotter, JI; de Bruin, TWA; Dallinga-Thie, GM;
Indirizzi:
Univ Utrecht Hosp, Dept Internal Med, NL-3508 GA Utrecht, Netherlands UnivUtrecht Hosp Utrecht Netherlands NL-3508 GA GA Utrecht, Netherlands Univndsmburg, Acad Hosp Maastricht, Dept Internal Med, Maastricht, Netherla Univ Limburg Maastricht Netherlands Internal Med, Maastricht, Netherla UnivsLimburg, Acad Hosp Maastricht, Dept Endocrinol, Maastricht, Netherland Univ Limburg Maastricht Netherlands Endocrinol, Maastricht, Netherland Cedars Sinai Inst, Dept Med, Los Angeles, CA 90048 USA Cedars Sinai Inst Los Angeles CA USA 90048 Med, Los Angeles, CA 90048 USA Cedars Sinai Inst, Dept Pediat, Los Angeles, CA 90048 USA Cedars Sinai Inst Los Angeles CA USA 90048 iat, Los Angeles, CA 90048 USA
Titolo Testata:
JOURNAL OF LIPID RESEARCH
fascicolo: 6, volume: 40, anno: 1999,
pagine: 1036 - 1044
SICI:
0022-2275(199906)40:6<1036:AOPLAA>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRIGLYCERIDE-RICH LIPOPROTEINS; AIV GENE-CLUSTER; FRAGMENT-LENGTH-POLYMORPHISMS; CORONARY-ARTERY DISEASE; A-I GENE; C-III; CIII GENE; TRANSGENIC MICE; DNA POLYMORPHISMS; LIPASE ACTIVITY;
Keywords:
familial combined hyperlipidemia; apolipoprotein CIII; insulin response element; gene-gene interaction;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
48
Recensione:
Indirizzi per estratti:
Indirizzo: Dallinga-Thie, GM Univlandscht Hosp, Dept Internal Med, POB 85500, NL-3508GA Utrecht, Nether Univ Utrecht Hosp POB 85500 Utrecht Netherlands NL-3508 GA
Citazione:
M. Groenendijk et al., "Association of plasma lipids and apolipoproteins with the insulin responseelement in the apoC-III promoter region in familial combined hyperlipidemia", J LIPID RES, 40(6), 1999, pp. 1036-1044

Abstract

The apoAI-CIII-AIV gene cluster, located on chromosome ii, 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 exon4 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. In the present study two additional poll-morphic 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 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,4 variants in the IRE were observed.j/r Analysis,sis of combinations ofhaplotypes 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.,. Association of plasma lipids and apolipoproteins with the insulin response element in the apoC-III promoter region in familial combined hyperlipidemia.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 15:26:48