Sökning: onr:"swepub:oai:lup.lub.lu.se:5124306e-9615-4e6c-9474-a925f11b9f2d" >
A novel homozygous ...
A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a caucasian kindred
-
Calabresi, Laura (författare)
-
- Nilsson, Peter (författare)
- Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups
-
Pinotti, Elisa (författare)
-
visa fler...
-
Gomaraschi, Monica (författare)
-
Favari, Elda (författare)
-
Adorni, Maria Pia (författare)
-
Bernini, Franco (författare)
-
Sirtori, Cesare R. (författare)
-
Calandra, Sebastiano (författare)
-
Franceschini, Guido (författare)
-
Tarugi, Patrizia (författare)
-
visa färre...
-
(creator_code:org_t)
- Elsevier BV, 2009
- 2009
- Engelska.
-
Ingår i: Atherosclerosis. - : Elsevier BV. - 1879-1484 .- 0021-9150. ; 205:2, s. 506-511
- Relaterad länk:
-
http://dx.doi.org/10...
-
visa fler...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- Objective: To analyze the cholesteryl ester transfer protein (CETP) gene and the plasma HDL phenotype in a Caucasian subject with extremely elevated plasma high density lipoprotein-cholesterol (HDL-C). Methods and results: The proband, a 63-year-old male of Swedish ancestry with elevated HDL-C (208 mg/dl) and apoA-I (and 272 mg/dl), was found to be homozygous for a point mutation in exon 2 of CETP gene (c.109 C > T) resulting in a premature termination codon (R37X). Plasma CETP mass and activity were undetectable. Plasma HDL were characterized by predominance of large HDL with enhanced pre beta-HDL content. The proband's sons, heterozygotes for the mutation, had reduced plasma CETP activity and moderately elevated HDL-C. Serum of CETP deficient subjects showed a normal or enhanced cholesterol efflux capacity via ABCG1/SR-BI; cholesterol efflux via ABCA1 and macrophage cholesterol removal were lower than normal. The proband was healthy and had no atherosclerotic plaques in carotid or femoral arteries. Conclusion: Complete CETP deficiency caused by mutations in CETP gene is exceedingly rare in Caucasians; the description of this single case indicates that CETP deficiency does not predispose to atherosclerosis in the absence of major cardiovascular risk factors. (c) 2009 Elsevier Ireland Ltd. All rights reserved.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Nyckelord
- transport
- Reverse cholesterol
- Cell cholesterol efflux
- CETP gene
- lipoproteins
- High density
- Primary hyperalphalipoproteinemia
- CETP deficiency
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Calabresi, Laura
-
Nilsson, Peter
-
Pinotti, Elisa
-
Gomaraschi, Moni ...
-
Favari, Elda
-
Adorni, Maria Pi ...
-
visa fler...
-
Bernini, Franco
-
Sirtori, Cesare ...
-
Calandra, Sebast ...
-
Franceschini, Gu ...
-
Tarugi, Patrizia
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Klinisk medicin
-
och Kardiologi
- Artiklar i publikationen
-
Atherosclerosis
- Av lärosätet
-
Lunds universitet