The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity
Four common polymorphisms in the promoter of the hepatic lipase gene (LIPC) that are in almost complete linkage disequilibrium have been described in different ethnic groups. The T and A alleles at positions −514 and −250, respectively, were observed to be associated with decreased hepatic lipase (H...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Elsevier
2000-01-01
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| Series: | Journal of Lipid Research |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0022227520320861 |
| _version_ | 1818386671873294336 |
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| author | Samir S. Deeb Reiling Peng |
| author_facet | Samir S. Deeb Reiling Peng |
| author_sort | Samir S. Deeb |
| collection | DOAJ |
| description | Four common polymorphisms in the promoter of the hepatic lipase gene (LIPC) that are in almost complete linkage disequilibrium have been described in different ethnic groups. The T and A alleles at positions −514 and −250, respectively, were observed to be associated with decreased hepatic lipase (HL) activity and increased triglyceride content of HDL and LDL particles. We investigated whether these polymorphisms have any effect on transcriptional activity of the proximal promoter (−639 to +29) in transient transfection assays. We found that the promoter with T at position −514 had approximately 30% lower activity than the one with C at the same position (P < 0.0005) regardless of the genotype at position −250. In conclusion, these data indicate that the −514T allele may contribute significantly to decreased HL activity and the resultant increase in plasma levels of triglyceride-rich HDL2 and large buoyant LDL particles. In addition, this promoter variant may explain the finding that its presence attenuates the increase in HL activity with increasing intra-abdominal fat in women. —Deeb, S. S., and R. Peng. The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity. |
| first_indexed | 2024-12-14T03:57:46Z |
| format | Article |
| id | doaj.art-29654b365d3d43d4a4d4e52cbd3322a5 |
| institution | Directory Open Access Journal |
| issn | 0022-2275 |
| language | English |
| last_indexed | 2024-12-14T03:57:46Z |
| publishDate | 2000-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Lipid Research |
| spelling | doaj.art-29654b365d3d43d4a4d4e52cbd3322a52022-12-21T23:18:02ZengElsevierJournal of Lipid Research0022-22752000-01-01411155158The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activitySamir S. Deeb0Reiling Peng1To whom correspondence should be addressed.; Departments of Medicine and Genetics, University of Washington, Seattle, WA 98195Departments of Medicine and Genetics, University of Washington, Seattle, WA 98195Four common polymorphisms in the promoter of the hepatic lipase gene (LIPC) that are in almost complete linkage disequilibrium have been described in different ethnic groups. The T and A alleles at positions −514 and −250, respectively, were observed to be associated with decreased hepatic lipase (HL) activity and increased triglyceride content of HDL and LDL particles. We investigated whether these polymorphisms have any effect on transcriptional activity of the proximal promoter (−639 to +29) in transient transfection assays. We found that the promoter with T at position −514 had approximately 30% lower activity than the one with C at the same position (P < 0.0005) regardless of the genotype at position −250. In conclusion, these data indicate that the −514T allele may contribute significantly to decreased HL activity and the resultant increase in plasma levels of triglyceride-rich HDL2 and large buoyant LDL particles. In addition, this promoter variant may explain the finding that its presence attenuates the increase in HL activity with increasing intra-abdominal fat in women. —Deeb, S. S., and R. Peng. The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity.http://www.sciencedirect.com/science/article/pii/S0022227520320861hepatic lipasepromoterpolymorphismsactivity |
| spellingShingle | Samir S. Deeb Reiling Peng The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity Journal of Lipid Research hepatic lipase promoter polymorphisms activity |
| title | The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity |
| title_full | The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity |
| title_fullStr | The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity |
| title_full_unstemmed | The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity |
| title_short | The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity |
| title_sort | c 514t polymorphism in the human hepatic lipase gene promoter diminishes its activity |
| topic | hepatic lipase promoter polymorphisms activity |
| url | http://www.sciencedirect.com/science/article/pii/S0022227520320861 |
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