Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women

Autor: Simon N. Pimstone, Wilson Wf, Martin G. Larson, Marianne E. Wittekoek, John J.P. Kastelein, Gerdes C, S. E. Gagne, Michael R. Hayden, Ernst J. Schaefer, Jolanda M. A. Boer, Jose M. Ordovas

Publikováno v: Clinical Genetics. 56:297-305

We assessed the effect of two common mutations in the lipoprotein lipase gene (LPL), D9N and N291S, which have been shown to modulate plasma lipids in a wide spectrum of patients. A total of 1114 men and 1 144 women from the Framingham Offspring Stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::93141ed7b4cab113166b8787cfb922a0
https://doi.org/10.1034/j.1399-0004.1999.560407.x

Ethnic variation and in vivo effects of the -93t->g promotor variant in the lipoprotein lipase gene

Autor: Ewa Ehrenborg, Michael R. Hayden, Howard E. Henderson, H. J. Davis, Susanne M. Clee, S. E. Gagne, R. Henry, Pascale Benlian, Nagat Bissada, J. J. P. Kastelein, L. J. Greenberg, P.W.A. Reymer, Jose M. Ordovas, Maritha J. Kotze, Simon N. Pimstone, Ernst J. Schaefer, C. F. Hoogendijk, Li Miao

Publikováno v: Arteriosclerosis, thrombosis and vascular biology, 17, 2672-2678. Lippincott Williams & Wilkins
Arteriosclerosis, thrombosis, and vascular biology, 17(11), 2672-2678. Lippincott Williams and Wilkins
Scopus-Elsevier
Karolinska Institutet

Abstract Recently, a (t→g) transition at nucleotide −93 in the lipoprotein lipase (LPL) gene promoter has been observed in Caucasians. Here, we have compared the frequency of the −93g carriers in three distinct populations (Caucasians, South Af

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d914374159367cdadf771078e03384c9
https://hdl.handle.net/11245/1.134975

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) results in altered postprandial chylomicron triglyceride and retinyl palmitate response in normolipidemic carriers

Autor: Li Miao, Michael R. Hayden, Evan A. Stein, Simon N. Pimstone, Hanfang Zhang, S. E. Gagne, Susanne M. Clee

Publikováno v: Scopus-Elsevier
Journal of Lipid Research, Vol 37, Iss 8, Pp 1675-1684 (1996)

An Asn291Ser mutation in exon 6 of the lipoprotein lipase gene (LPL) frequently occurs in Caucasians (2-4%) and results in a partial catalytic defect. Although this mutation may be associated with low HDL cholesterol and elevated triglyceride levels,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e91c78c3531ceec555ceab0471c0fc7
https://doi.org/10.1016/s0022-2275(20)39110-0