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

  • Suwei Hu , Yanfang Zhong , Yuantao Hao , Minqi Luo , Yan Zhou , Hui Guo , Weijiao Liao , Desheng Wan , Haiyun Wei , Yueting Gao , Jinglan Shan , Bin Hu , Maj Hultén und Yiming Wang
Veröffentlicht/Copyright: 11. September 2009
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Clinical Chemistry and Laboratory Medicine
Aus der Zeitschrift Clinical Chemistry and Laboratory Medicine Band 47 Heft 10

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
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: 2009-3-22
Accepted: 2009-7-8
Published Online: 2009-09-11
Published in Print: 2009-10-01

©2009 by Walter de Gruyter Berlin New York

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  2. Cardiac troponins: what we knew, what we know – where are we now?
  3. Review
  4. Measurement of circulating concentrations of cardiac troponin I and T in healthy subjects: a tool for monitoring myocardial tissue renewal?
  5. Opinion Papers
  6. A critical appraisal of experimental factors influencing the definition of the 99th percentile limit for cardiac troponins
  7. Genetic and biochemical heterogeneity of cardiac troponins: clinical and laboratory implications
  8. The future of hospital laboratories. Position statement from the Royal Belgian Society of Clinical Chemistry (RBSCC)
  9. Point
  10. Quantity quotient reporting. A proposal for a standardized presentation of laboratory results
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  13. Perspectives
  14. Increasing laboratory medicine activities in China: research and publications
  15. Contributions in Biochemistry and Molecular Biology from China and other top-ranking countries: a 10-year survey of the literature
  16. Genetics and Molecular Diagnostics
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  18. Polymorphisms of the β1-adrenergic receptor gene are associated with essential hypertension in Chinese
  19. Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId
  20. Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese
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  30. The soluble transferrin receptor (TfR)-F-Index is not applicable as a test for iron status in patients with chronic lymphocytic leukemia
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  32. Letters to the Editor
  33. Clinical value of a competitive NT-proBNP enzyme immunoassay compared to the Roche NT-proBNP platform
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https://doi.org/10.1515/CCLM.2009.284
Schlagwörter für diesen Artikel
ATP binding cassette transporter 1 gene (ABCA1); cholesterol efflux regulatory protein; high-density lipoprotein cholesterol; rare allele

Artikel in diesem Heft

  1. Editorial
  2. Cardiac troponins: what we knew, what we know – where are we now?
  3. Review
  4. Measurement of circulating concentrations of cardiac troponin I and T in healthy subjects: a tool for monitoring myocardial tissue renewal?
  5. Opinion Papers
  6. A critical appraisal of experimental factors influencing the definition of the 99th percentile limit for cardiac troponins
  7. Genetic and biochemical heterogeneity of cardiac troponins: clinical and laboratory implications
  8. The future of hospital laboratories. Position statement from the Royal Belgian Society of Clinical Chemistry (RBSCC)
  9. Point
  10. Quantity quotient reporting. A proposal for a standardized presentation of laboratory results
  11. Counterpoint
  12. Quantity quotient reporting. Counterpoint
  13. Perspectives
  14. Increasing laboratory medicine activities in China: research and publications
  15. Contributions in Biochemistry and Molecular Biology from China and other top-ranking countries: a 10-year survey of the literature
  16. Genetics and Molecular Diagnostics
  17. SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells
  18. Polymorphisms of the β1-adrenergic receptor gene are associated with essential hypertension in Chinese
  19. Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId
  20. Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese
  21. –308G>A and –1031T>C tumor necrosis factor gene polymorphisms in Tunisian patients with coronary artery disease
  22. General Clinical Chemistry and Laboratory Medicine
  23. Error tracking in a clinical biochemistry laboratory
  24. HbA1c measurements from dried blood spots: validation and patient satisfaction
  25. Pre-transplant serum concentrations of anti-endothelial cell antibody in panel reactive antibody negative renal recipients and its impact on acute rejection
  26. Cancer Diagnostics
  27. Detection of Meningeosis neoplastica by real-time quantitation of telomerase activity
  28. The prognostic utility of haptoglobin genotypes in squamous cell carcinoma of the head and neck
  29. Evaluation of a new method for the diagnosis of alterations of Lens culinaris agglutinin binding of thyroglobulin molecules in thyroid carcinoma
  30. The soluble transferrin receptor (TfR)-F-Index is not applicable as a test for iron status in patients with chronic lymphocytic leukemia
  31. Impact of calibration fitting models on the clinical value of chromogranin A
  32. Letters to the Editor
  33. Clinical value of a competitive NT-proBNP enzyme immunoassay compared to the Roche NT-proBNP platform
  34. Should gender-related reference values be used for total bilirubin?
  35. A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy
  36. Abstracts
  37. 41st National Congress of the Italian Society of Clinical Biochemistry and Clinical Molecular Biology, 2nd Joint National Event SIBioC-SIMeL
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