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© 1995 Oxford University Press

OTHER

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia

Paul W.A. Reymer, Björn E. Groenemeyer, Eric Gagné1, Li Miao1, Elianne E.G. Appelman, Jaap C. Seidel2, Daan Kromhout2, Saskia M. Bijvoet, Karin van de Oever, Taco Bruin, Michael R. Hayden1 and John J. P.Kastelein*

Department of Vascular Medicine, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam the Netherlands 1Department of Medical Genetics, University of British Columbia, 416–2125 East Mall, Vancouver, B. C. V6T 1Z4 Canada 2Department of Chronic Disease and Environmental Epidemiology, RIVM, Bilthoven the Netherlands

*To whom correspondence should be addressed

Revised June 6, 1995; Accepted June 6, 1995

We performed denaturing gradient gel electrophor-esis (DGGE) of exons 4, 5, 6 and their exon-intron boundaries of the LPL-gene in 169 unrelated male patients suffering from familial combined hyperlipide-mia (FCH). Twenty patients were found to carry a nucleotide substitution in exon 6. Sequence and PCR/ digestion analysis revealed one common mutation (Asn291Ser) in all these cases. This mutation was also present in 215 male controls, albeit at a lower frequency than in FCH patients (10/215 = 4. 6% vs. 20/ 169 = 11. 8% p <0. 02). Analysis of lipid, lipoprotein and apolipoprotein levels demonstrated an association between the presence of this Asn291Ser substitution and decreased HDL-cholesterol (0. 94 ± 0. 31 vs. 1. 12 ± 0. 26 mmol/ l; p < 0. 04) in our controls. FCH patients carrying this mutation showed decreased HDL-cholesterol (0.75 ± 0. 16 vs. 0. 95 ± 0.36 mmol/l; p = 0. 05) and increased triglyceride levels (5. 96 ± 4. 12 vs. 3.48 ± 1.78 mmol/ l; p < 0. 005) compared to non-carriers. The high triglyceride and low HDL-cholesterol phenotype in carriers of this substitution was most obvious when BMI exceded 27 kg/ m2. Our study of male FCH patients revealed the presence of a common mutation in the LPL-gene that is associated with lipoprotein abnormalities, indicating that defective LPL is at least one of the factors contributing to the FCH-phenotype.


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