A common variant in the gene for lipoprotein lipase (Asp9--Asn). Functional implications and prevalence in normal and hyperlipidemic subjects
| Autor: | France Mailly, Yesim Tugrul, Paul W. A. Reymer, Taco Bruin, Mary Seed, Björn F. Groenemeyer, Anette Asplund-Carlson, David Vallance, Anthony F. Winder, George J. Miller, John J. P. Kastelein, Anders Hamsten, Gunilla Olivecrona, Steve E. Humphries, Philippa J. Talmud |
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| Rok vydání: | 1995 |
| Předmět: |
Adult
Male medicine.medical_specialty Denmark Molecular Sequence Data Hyperlipidemia Familial Combined Biology medicine.disease_cause Combined hyperlipidemia chemistry.chemical_compound Gene Frequency Internal medicine Blood plasma Hyperlipidemia medicine Humans Amino Acid Sequence Allele frequency Genetics Sweden Lipoprotein lipase Mutation Triglyceride Base Sequence Hypertriglyceridemia DNA Middle Aged medicine.disease Lipoprotein Lipase Endocrinology chemistry England Mutagenesis Site-Directed Female Cardiology and Cardiovascular Medicine |
| Zdroj: | Arteriosclerosis, thrombosis, and vascular biology. 15(4) |
| ISSN: | 1079-5642 |
| Popis: | Abstract Subjects with combined hyperlipidemia (CHL) were screened for mutations in the lipoprotein lipase (LPL) gene by single-strand conformational polymorphism, and a previously reported G→A DNA sequence change in exon 2, causing substitution of Asp by Asn at position 9, was identified in 2 individuals. Because this substitution destroys a recognition site for Taq I, pooling of DNA samples, amplification, and digest with Taq I allowed the rapid screening of 1563 healthy individuals and patients of Dutch, Swedish, English, and Scottish origin. In the general populations of all four countries, healthy carriers of the mutation were detected at a frequency of 1.6% to 4.4% (mean, 3.0%; 95% confidence interval, 2.0% to 4.0%). The frequency of carriers was roughly twice as high (range, 4.0% to 9.8%) in selected patients with CHL or type IV hyperlipoproteinemia or in subjects with angiographically assessed atherosclerosis; the frequency was consistently higher in each patient group compared with its matched control group. In 773 healthy men from two general practices in the United Kingdom, 25 carriers and 2 homozygotes for the mutation were identified. In these 27, plasma triglyceride but not plasma cholesterol levels were significantly higher than in noncarriers (2.25 versus 1.82 mmol/L, P |
| Databáze: | OpenAIRE |
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