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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 47, Issue 10

Issues

Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese

Suwei Hu
  • Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, Guangzhou, P.R. China
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/ Yanfang Zhong
  • Department of Prenatal Diagnosis, Guangdong Women and Children Hospital and Health Institute, Guangzhou, P.R. China
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/ Yuantao Hao
  • Department of Medical Statistics and Epidemiology, School of Public Health, Sun Yat-Sen University, Guangzhou, P.R. China
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/ Minqi Luo
  • Department of Clinical Laboratory, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, P.R. China
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/ Yan Zhou / Hui Guo / Weijiao Liao
  • Department of Clinical Laboratory, The First Affiliated Hospital of Guangzhou Medical College, Guangzhou, P.R. China
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/ Desheng Wan / Haiyun Wei / Yueting Gao
  • Department of Clinical Laboratory, The First Affiliated Hospital of Guangzhou Medical College, Guangzhou, P.R. China
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/ Jinglan Shan
  • Department of Clinical Laboratory, The First Affiliated Hospital of Guangzhou Medical College, Guangzhou, P.R. China
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/ Bin Hu
  • Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, Guangzhou, P.R. China
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/ Maj Hultén / Yiming Wang
  • Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, Guangzhou, P.R. China
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Published Online: 2009-09-11 | DOI: https://doi.org/10.1515/CCLM.2009.284

Abstract

Background: High-density lipoprotein (HDL) is a major plasma lipoprotein directly associated with cholesterol metabolism. The ATP binding cassette transporter 1 gene (ABCA1) is one of the major genes modulating plasma levels of HDL-cholesterol (HDL-C). Rare alleles of ABCA1 associated with extreme HDL-C concentrations have not been previously investigated in the Chinese.

Methods: Blood samples were collected from 470 subjects whose HDL-C concentrations were within the top 5% of the distribution, 335 subjects in the lowest 5%, and 220 within the range 5%–95%. First, we sequenced all exons of the ABCA1 gene from 50 subjects from the group with extremely high HDL-C, and 50 from the group with extremely low HDL-C concentrations. Next, in the remaining subjects, we genotyped the non-synonymous variants identified exclusively with either extreme group.

Results: Four novel non-synonymous alleles were identified; all were rare. Alleles c.3029C>T (p.Ala1010Val) and c.5399A>G (p.Asn1800Ser) were found exclusively in the low group, c.2031C>A (p.Asp677Glu) and c.2660G>T (p.Cys887Phe) exclusively in the high group.

Conclusions: Our results show that some rare alleles of ABCA1 are associated with marked phenotypes, supporting the “rare-variant common-disease” hypothesis. Certain alleles also provide tools for identifying individuals at high risk of dyslipidaemia, allowing for early therapeutic intervention.

Clin Chem Lab Med 2009;47:1239–45.

Keywords: ATP binding cassette transporter 1 gene (ABCA1); cholesterol efflux regulatory protein; high-density lipoprotein cholesterol; rare allele

About the article

Corresponding author: Prof. Yiming Wang, Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, 74 Zhongshan Road II, Guangzhou 510089, P.R. China Phone: +86-20-87332055, Fax: +86-20-87335785,


Received: 2009-03-22

Accepted: 2009-07-08

Published Online: 2009-09-11

Published in Print: 2009-10-01


Citation Information: Clinical Chemistry and Laboratory Medicine, Volume 47, Issue 10, Pages 1239–1245, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2009.284.

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