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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Greaves, Ronda / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter


IMPACT FACTOR 2018: 3.638

CiteScore 2018: 2.44

SCImago Journal Rank (SJR) 2018: 1.191
Source Normalized Impact per Paper (SNIP) 2018: 1.205

Online
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1437-4331
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Volume 46, Issue 6

Issues

APOA5 Ala315>Val, identified in patients with severe hypertriglyceridemia, is a common mutation with no major effects on plasma lipid levels

Jaroslav A. Hubacek
  • 1Institute for Clinical and Experimental Medicine, Prague, Czech Republic and Cardiovascular Research Center, Prague, Czech Republic
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Wu-Wei Wang / Zdena Škodová / Věra Adámková / Michal Vráblík
  • 5Third Department of Medicine, First School of Medicine, Charles University, Prague, Czech Republic
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  • De Gruyter OnlineGoogle Scholar
/ Aleš Hořínek
  • 6Third Department of Medicine, First School of Medicine, Charles University, Prague, Czech Republic
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  • De Gruyter OnlineGoogle Scholar
/ Tomáš Štulc
  • 7Third Department of Medicine, First School of Medicine, Charles University, Prague, Czech Republic
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  • De Gruyter OnlineGoogle Scholar
/ Richard Češka
  • 8Third Department of Medicine, First School of Medicine, Charles University, Prague, Czech Republic
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  • De Gruyter OnlineGoogle Scholar
/ Philippa J. Talmud

Abstract

Background: The importance of the apolipoprotein A5 (APOA5) gene in determining plasma triglyceride (TG) levels has been demonstrated in transgenic and knockout mice and confirmed by human association studies in different ethnic groups.

Methods: We screened for nonsynonymous APOA5 mutations in patients with plasma TG levels >10 mmol/L. The coding sequence and promoter region of the APOA5 gene were sequenced in 95 individuals with severe hypertriglyceridemia (HTG). A large population sample of 3202 individuals was screened by PCR and restriction analysis for presence of detected mutation.

Results: In total, three heterozygous carriers of 944C>T (Ala315>Val) were identified in the severe HTG patients, while 22 carriers were identified in the population sample. The rare allele frequency of the Val315 was significantly higher in the HTG sample than in controls (0.016 vs. 0.003, p<0.01, respectively). Most of the control Ala315Val carriers, however, had plasma lipid levels (TGs, total cholesterol and high-density lipoprotein cholesterol) within the usual range detected in the population.

Conclusions: APOA5 Ala315>Val does not play any dominant/important role in the genetic determination of plasma TG levels, but the increased frequency in HTG patients compared to controls suggests that it might interact with other gene variants to cause HTG.

Clin Chem Lab Med 2008;46:773–7.

Keywords: apolipoprotein A5; mutation; triglycerides

About the article

Corresponding author: Jaroslav A. Hubacek, IKEM-CEM-LMG, Videnska 1958/9, 140 21, Prague 4, Czech Republic Phone: +420-261-363 367,


Received: 2007-12-05

Accepted: 2008-02-08

Published in Print: 2008-06-01


Citation Information: Clinical Chemistry and Laboratory Medicine, Volume 46, Issue 6, Pages 773–777, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2008.160.

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