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Titolo:
HYPERTRIGLYCERIDEMIA AND THE APOLIPOPROTEIN-CIII GENE LOCUS - LACK OFASSOCIATION WITH THE VARIANT INSULIN-RESPONSE ELEMENT IN ITALIAN SCHOOL-CHILDREN
Autore:
SHOULDERS CC; GRANTHAM TT; NORTH JD; GASPARDONE A; TOMAI F; DEFAZIO A; VERSACI F; GIOFFRE PA; COX NJ;
Indirizzi:
HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,MRC,MOL MED GRP,DU CANE RD LONDON W12 0NN ENGLAND UNIV ROMA TOR VERGATA,CATTEDRA CARDIOL PEDIAT ROME ITALY UNIV CHICAGO,HOWARD HUGHES MED INST CHICAGO IL 60637
Titolo Testata:
Human genetics
fascicolo: 5, volume: 98, anno: 1996,
pagine: 557 - 566
SICI:
0340-6717(1996)98:5<557:HATAGL>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
CORONARY HEART-DISEASE; FRAGMENT-LENGTH-POLYMORPHISMS; FAMILIAL COMBINED HYPERLIPIDEMIA; LIPOPROTEIN-LIPASE ACTIVITY; C-III GENE; DNA POLYMORPHISMS; APO-CIII; A-I; PLASMA TRIGLYCERIDE; QUANTITATIVE-DETERMINATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
66
Recensione:
Indirizzi per estratti:
Citazione:
C.C. Shoulders et al., "HYPERTRIGLYCERIDEMIA AND THE APOLIPOPROTEIN-CIII GENE LOCUS - LACK OFASSOCIATION WITH THE VARIANT INSULIN-RESPONSE ELEMENT IN ITALIAN SCHOOL-CHILDREN", Human genetics, 98(5), 1996, pp. 557-566

Abstract

Hypertriglyceridemia is a common metabolic disorder with a major inherited component. In some individuals the condition is suspected to occur as a result of overproduction of apolipoprotein (apo)CIII, a major constituent of triglyceride-rich lipoproteins. Population studies haveestablished an association with the apoCIII gene but the identity of the causal mutation remains unknown. In the present study we have examined a series of six 5' polymorphic nucleotides (G(-935) to A, C-641 to A, G(-630) to A, deletion of T-625, C-482 to T, and T-455 to C) thatlie within the promoter region of the apoCIII gene for evidence of possible involvement in disease susceptibility. The polymorphic nucleotides at positions -455 and -482 reside within a negative insulin-response element. We show, in a community-based sample of 503 school children, that a DNA polymorphism (S2 allele) within the 3'-noncoding region of the apoCIII gene was associated with elevated apoCIII and triglyceride levels, but that the polymorphic nucleotides of the promoter were not. In addition, no obvious effect of any extended apoCIII promoter haplotype on plasma apoCIII or triglyceride levels, over and above thatconferred by the presence of the S2 polymorphic nucleotide, was detected. These results demonstrate that none of the 5' apoCIII polymorphisms can account for the association of the apoCIII gene locus with hypertriglyceridemia and, moreover, owing to linkage disequilibrium, raisethe possibility that the region conferring susceptibility maps downstream, rather than upstream, of the apoCIII gene promoter sequences.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/09/20 alle ore 20:38:31