The Asn‐291→Ser and Ser‐477→Stop mutations of the lipoprotein lipase gene and their significance for lipid metabolism in patients with hypertriglyceridaemia
| Autor: | Sonja Ehnholm, P. Knudsen, Marja-Riitta Taskinen, Christian Ehnholm, Marjatta Antikainen, S. Murtomäki, S. Lahdenperä |
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| Rok vydání: | 1997 |
| Předmět: |
Adult
Male Very low-density lipoprotein medicine.medical_specialty Lipoproteins Clinical Biochemistry Population 030204 cardiovascular system & hematology Biology Biochemistry 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Humans education Aged 030304 developmental biology Hypertriglyceridemia 0303 health sciences Lipoprotein lipase education.field_of_study Lipid metabolism General Medicine Middle Aged Lipid Metabolism medicine.disease 3. Good health Minor allele frequency Lipoprotein Lipase Endocrinology Diabetes Mellitus Type 2 Mutation Female Hepatic lipase Lipoprotein |
| Zdroj: | European Journal of Clinical Investigation. 27:928-935 |
| ISSN: | 1365-2362 0014-2972 |
| Popis: | We examined 99 Finnish patients whose serum fasting triglycerides (TG) had exceeded 6.0mmol L -1 , with special interest to their lipid, lipoprotein and post-heparin plasma lipase activities. The control group consisted of 75 healthy individuals. We also determined the frequency of the Asn-291→Ser and Ser-447→Stop mutations both in hypertriglyceridaemic (HTG) subjects and in control subjects. A total of 51 of the original 99 hypertriglyceridaemic patients still had TG > 6.0 mmol L -1 when measured a second time. They are referred to as persistently hypertriglyceridaemic subjects (pHTG). The remaining 48 subjects had TG < 6.0 mmol L -1 in the second measurement and are referred to as sporadically hypertriglyceridaemic subjects (sHTG). The allelic frequencies of the Ser-447→Stop mutation in the total HTG and sHTG groups were similar to the frequencies present in the control group, but lower in pHTG patients compared with the control group (0.049 vs. 0.153, X 2 = 6.63, P < 0.05). The Asn-291→Ser mutation was more frequent in HTG group than in the control group (0.0606 vs. 0.013, X 2 = 4.86, P < 0.05). This difference was due to the higher frequency of the minor allele of Asn-291→Ser in the cohort with persistent hypertriglyceridaemia compared with the control group (0.088 vs. 0.013, X 2 = 8.00, P |
| Databáze: | OpenAIRE |
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