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A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a caucasian kindred

Calabresi, Laura; Nilsson, Peter LU ; Pinotti, Elisa; Gomaraschi, Monica; Favari, Elda; Adorni, Maria Pia; Bernini, Franco; Sirtori, Cesare R.; Calandra, Sebastiano and Franceschini, Guido, et al. (2009) In Atherosclerosis 205(2). p.506-511
Abstract
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... (More)
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. (Less)
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publication status
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subject
keywords
transport, Reverse cholesterol, Cell cholesterol efflux, CETP gene, lipoproteins, High density, Primary hyperalphalipoproteinemia, CETP deficiency
in
Atherosclerosis
volume
205
issue
2
pages
506 - 511
publisher
Elsevier
external identifiers
  • wos:000269289500030
  • scopus:67650892211
ISSN
1879-1484
DOI
10.1016/j.atherosclerosis.2009.01.006
language
English
LU publication?
yes
id
5124306e-9615-4e6c-9474-a925f11b9f2d (old id 1476792)
date added to LUP
2009-09-25 08:55:26
date last changed
2017-10-08 03:40:46
@article{5124306e-9615-4e6c-9474-a925f11b9f2d,
  abstract     = {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.},
  author       = {Calabresi, Laura and Nilsson, Peter and Pinotti, Elisa and Gomaraschi, Monica and Favari, Elda and Adorni, Maria Pia and Bernini, Franco and Sirtori, Cesare R. and Calandra, Sebastiano and Franceschini, Guido and Tarugi, Patrizia},
  issn         = {1879-1484},
  keyword      = {transport,Reverse cholesterol,Cell cholesterol efflux,CETP gene,lipoproteins,High density,Primary hyperalphalipoproteinemia,CETP deficiency},
  language     = {eng},
  number       = {2},
  pages        = {506--511},
  publisher    = {Elsevier},
  series       = {Atherosclerosis},
  title        = {A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a caucasian kindred},
  url          = {http://dx.doi.org/10.1016/j.atherosclerosis.2009.01.006},
  volume       = {205},
  year         = {2009},
}