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Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese
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Hu, Suwei, Zhong, Yanfang, Hao, Yuantao, Luo, Minqi, Zhou, Yan, Guo, Hui, Liao, Weijiao, Wan, Desheng, Wei, Haiyun, Gao, Yueting, Shan, Jinglan, Hu, Bin, Hultén, Maj A. and Wang, Yiming (2009) Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese. Clinical Chemistry and Laboratory Medicine, Vol.47 (No.10). pp. 1239-1245. doi:10.1515/CCLM.2009.284 ISSN 1434-6621.
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Official URL: http://dx.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.
| Item Type: | Journal Article | ||||
|---|---|---|---|---|---|
| Subjects: | R Medicine | ||||
| Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School | ||||
| Journal or Publication Title: | Clinical Chemistry and Laboratory Medicine | ||||
| Publisher: | Walter de Gruyter GmbH & Co. KG | ||||
| ISSN: | 1434-6621 | ||||
| Official Date: | October 2009 | ||||
| Dates: |
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| Volume: | Vol.47 | ||||
| Number: | No.10 | ||||
| Number of Pages: | 7 | ||||
| Page Range: | pp. 1239-1245 | ||||
| DOI: | 10.1515/CCLM.2009.284 | ||||
| Status: | Peer Reviewed | ||||
| Publication Status: | Published | ||||
| Access rights to Published version: | Restricted or Subscription Access | ||||
| Funder: | 985 Project of China, Natural Science Foundation of Guangdong Province, Guangzhou Municipal Science and Technology Foundation | ||||
| Grant number: | 031673, 2002Z3-C7191, 2004Z3-C7501 |
Data sourced from Thomson Reuters' Web of Knowledge
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