ISSN:
1432-0428
Schlagwort(e):
Keywords Type II diabetes, dyslipaemia, triglyceride, type V hyperlipidaemia, apolipoprotein C-III, apolipoprotein E, lipoprotein lipase, polymorphism, mutation, genetics.
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
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 in the 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 genotypes and 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). Additionally this 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 H 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. [Diabetologia (2000) 43: 1346–1352]
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/s001250051537
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