caa a22 4500 475773209 CHVBK 20180406123623.0 cr unu---uuuuu 170329e20001001xx s 000 0 eng 10.1007/s001250051537 doi (NATIONALLICENCE)springer-10.1007/s001250051537 Severe hypertriglyceridaemia in Type II diabetes: involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency [Elektronische Daten] [C. Marçais, S. Bernard, M. Merlin, M. Ulhmann, B. Mestre, L. Rochet-Mingret, A. Revol, F. Berthezene, P. Moulin] 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] Springer-Verlag Berlin Heidelberg, 2000 Keywords Type II diabetes, dyslipaemia, triglyceride, type V hyperlipidaemia, apolipoprotein C-III, apolipoprotein E, lipoprotein lipase, polymorphism, mutation, genetics nationallicence Marçais C. CNRS UMR5014 Laboratory, Lyon-I University, Lyon, France, FR aut Bernard S. Department of Endocrinology, Antiquaille Hospital, Lyon, France, FR aut Merlin M. Department of Biochemistry CHLS Hospital, Lyon, France, FR aut Ulhmann M. Department of Biochemistry CHLS Hospital, Lyon, France, FR aut Mestre B. Department of Endocrinology - CHLS, Lyon, France, FR aut Rochet-Mingret L. Department of Endocrinology - CHLS, Lyon, France, FR aut Revol A. Department of Biochemistry CHLS Hospital, Lyon, France, FR aut Berthezene F. Department of Endocrinology, Antiquaille Hospital, Lyon, France, FR aut Moulin P. CNRS UMR5014 Laboratory, Lyon-I University, Lyon, France, FR aut https://doi.org/10.1007/s001250051537 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s001250051537 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Marçais C. CNRS UMR5014 Laboratory, Lyon-I University, Lyon, France, FR aut NATIONALLICENCE 700 1- Bernard S. Department of Endocrinology, Antiquaille Hospital, Lyon, France, FR aut NATIONALLICENCE 700 1- Merlin M. Department of Biochemistry CHLS Hospital, Lyon, France, FR aut NATIONALLICENCE 700 1- Ulhmann M. Department of Biochemistry CHLS Hospital, Lyon, France, FR aut NATIONALLICENCE 700 1- Mestre B. Department of Endocrinology - CHLS, Lyon, France, FR aut NATIONALLICENCE 700 1- Rochet-Mingret L. Department of Endocrinology - CHLS, Lyon, France, FR aut NATIONALLICENCE 700 1- Revol A. Department of Biochemistry CHLS Hospital, Lyon, France, FR aut NATIONALLICENCE 700 1- Berthezene F. Department of Endocrinology, Antiquaille Hospital, Lyon, France, FR aut NATIONALLICENCE 700 1- Moulin P. CNRS UMR5014 Laboratory, Lyon-I University, Lyon, France, FR aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer