A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a caucasian kindred
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1476792
- author
- organization
- publishing date
- 2009
- type
- Contribution to journal
- publication status
- published
- 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
- 2016-04-01 12:25:12
- date last changed
- 2022-01-27 03:27:31
@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}}, keywords = {{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}}, doi = {{10.1016/j.atherosclerosis.2009.01.006}}, volume = {{205}}, year = {{2009}}, }