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Titolo:
Severe hypertriglyceridaemia in Type II diabetes: involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency
Autore:
Marcais, C; Bernard, S; Merlin, M; Ulhmann, M; Mestre, B; Rochet-Mingret, L; Revol, A; Berthezene, F; Moulin, P;
Indirizzi:
Univ Lyon 1, CNRS UMR5014 Lab, F-69365 Lyon, France Univ Lyon 1 Lyon France F-69365 , CNRS UMR5014 Lab, F-69365 Lyon, France Ctr Hosp Lyon Sud, Dept Endocrinol, F-69495 Pierre Benite, France Ctr HospLyon Sud Pierre Benite France F-69495 495 Pierre Benite, France Antiquaille Hosp, Dept Endocrinol, Lyon, France Antiquaille Hosp Lyon France uaille Hosp, Dept Endocrinol, Lyon, France
Titolo Testata:
DIABETOLOGIA
fascicolo: 11, volume: 43, anno: 2000,
pagine: 1346 - 1352
SICI:
0012-186X(200011)43:11<1346:SHITID>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
LIPOPROTEIN-LIPASE GENE; FAMILIAL COMBINED HYPERLIPIDEMIA; APOLIPOPROTEIN-C-III; INSULIN-RESPONSE ELEMENT; CORONARY HEART-DISEASE; MISSENSE MUTATION; E PHENOTYPE; MELLITUS; CIII; TRIGLYCERIDE;
Keywords:
Type II diabetes; dyslipaemia; triglyceride; type V hyperlipidaemia; apolipoprotein C-III; apolipoprotein E; lipoprotein lipase; polymorphism; mutation; genetics;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
53
Recensione:
Indirizzi per estratti:
Indirizzo: Marcais, C Ctr Hosp Lyon Sud, Biochim Lab, Dept Biochem, Chemin Grand Revoyet, F-69495 Pierre Benite, France Ctr Hosp Lyon Sud Chemin Grand Revoyet Pierre Benite France F-69495
Citazione:
C. Marcais et al., "Severe hypertriglyceridaemia in Type II diabetes: involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency", DIABETOLOG, 43(11), 2000, pp. 1346-1352

Abstract

Aims/hypothesis. Hypertriglyceridaemia is common in Type II (non-insulin-dependent) diabetes mellitus. Only subgroups of patient however have type V hyperlipidaemia. To investigate the coordination between genetic factors inthe modulation of hypertriglyceridaemia in Type II diabetes, we studied three major modifier loci: apoC-III (both Sst-I and insulin-responsive element polymorphisms), apolipoprotein E genotypes and lipoprotein-lipase mutations. Methods. We studied apoCIII gene polymorphisms, apolipoprotein E genotypesand lipoprotein-lipase gene mutations in 176 patients with Type II (non-insulin-dependent) diabetes mellitus, either normolipaemic (group N, n = 116), mildly hypertriglyceridaemic (group T, n = 28) or with a history of severe hypertriglyceridaemia (triglyceride > 15 g/l) (group H, n = 32). Results. Mild hypertriglyceridaemia in Type II diabetes did not associate with any gene variants in this study. Severe hypertriglyceridaemia was, however, associated with the presence of the apoC-III S2 allele (50% of the patients in group H compared with 15.5% in group N, p < 0.0001). Additionallythis particular phenotype was associated with a low prevalence of the apo E3 allele (35.9% in group H vs 18.1% in group N,p < 0.005) and a statistically significant over-representation of the E2E4 genotypes. Inactivating lipoprotein-lipase mutations were found in four patients (three heterozygotes,one homozygote), none was found in group N or T. Thus 68.7% of group K patients (22/32) (vs 21.4% in group T, p < 0.0005) were carriers of either S2 allele, lipoprotein-lipase mutants or E2E4 genotype with most lipoprotein-lipase mutants or E2E4 genotypes or both in the non-carriers for the S2 allele (6/7). Conclusion/interpretation. Our results strongly support the hypothesis that severe hyperlipaemia in Type II diabetes crucially depends on genetic factors which impair the clearance of triglyceride-rich Lipoproteins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 00:48:24