A hepatic lipase (LIPC) allele associated with high plasma concentrations of high density lipoprotein cholesterol

Abstract Strain C57BL/6J and A/J differ at two genes determining atherosclerosis susceptibility. The first gene, Ath-1, was described earlier and this report characterizes Ath-2. The alleles at Ath-2 are r for resistance and s for susceptibility to atherosclerosis. The resistant phenotype in female mice is characterized by high plasma high density lipoprotein-cholesterol levels (74 mg/dl +/- SEM 2) and very few lesions/mouse after 14 weeks of consumption of an atherogenic diet (0.1 +/- SEM 0.1 in a predetermined region of the aorta). The susceptible phenotype in female mice is characterized by low levels of high density lipoprotein-cholesterol (35 mg/dl +/- SEM 1) and 1.2 lesions/mouse +/- SEM 0.2 in the same region of the aorta. In Ath-2 heterozygotes, resistance is dominant to susceptibility. Recombinant inbred strains derived from C57BL/6 and A were characterized for Apoa 1, Apoa 2 and susceptibility to atherosclerosis. Ath-1 and Ath-2 interact with each other so that resistant alleles at either locus confer a resistant phenotype to the animal. The map position of Ath-2 is not known, but Ath-2 does not map near genes determining the apolipoproteins for A-I, A-II, or E.

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Consistently high plasma high-density lipoprotein-cholesterol levels in children in Spain, a country with low cardiovascular mortality

Metabolism ◽

10.1016/j.metabol.2004.03.012 ◽

2004 ◽

Vol 53 (8) ◽

pp. 1045-1047 ◽

Cited By ~ 11

Author(s):

Carmen Garcés ◽

Angel Gil ◽

Mercedes Benavente ◽

Enrique Viturro ◽

Beatriz Cano ◽

...

Keyword(s):

High Density Lipoprotein ◽

High Density Lipoprotein Cholesterol ◽

Cardiovascular Mortality ◽

Density Lipoprotein ◽

High Plasma ◽

High Density ◽

Lipoprotein Cholesterol ◽

Cholesterol Levels ◽

Plasma High Density Lipoprotein ◽

Plasma High Density

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Libyan family with hypercholesterolemia and increased high-density lipoprotein cholesterol in plasma

Clinical Chemistry ◽

10.1093/clinchem/40.12.2313 ◽

1994 ◽

Vol 40 (12) ◽

pp. 2313-2316 ◽

Cited By ~ 5

Author(s):

D S Sheriff ◽

M el Fakhri ◽

K Ghwarsha

Keyword(s):

High Density Lipoprotein ◽

Cholesteryl Ester ◽

Cholesterol Metabolism ◽

Hepatic Lipase ◽

Plasma Concentrations ◽

Density Lipoprotein ◽

Hdl Cholesterol ◽

High Density ◽

Lipoprotein Cholesterol ◽

Plasma Lipoproteins

Abstract Genetic deficiencies of cholesteryl ester transport protein (CETP) and hepatic lipase activities have been associated with hyperalpha-lipoproteinemias. Here we present a family of 11 members, of which 9, including the father, mother, 5 sons, and 2 daughters, show a marked increase in high-density lipoprotein (HDL) cholesterol alone with low plasma concentrations of triglycerides. Analyses of lecithin:cholesterol acyltransferase (LCAT) activity, cholesteryl ester transfer between HDL fractions, hepatic lipase (HL) activity, and lipoprotein lipase (LPL) activity in these cases showed that a decrease in the heparin-releasable HL activity was the possible cause of the marked increase of HDL2 fractions observed in nine of them. Such a defect in HL activity could significantly affect HDL metabolism in particular and lipoprotein metabolism in general. Evidently, a marked increase in serum total cholesterol due to abnormal metabolism of HDL cholesterol, separate from known causes of altered low-density lipoprotein cholesterol metabolism, e.g., a clearance or a receptor defect, is not uncommon. The coordinated action of HL, LCAT, LPL, and CETP may be essential for normal metabolism of plasma lipoproteins.

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