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2009-07-08Zeitschriftenartikel DOI: 10.1515/CCLM.2009.284
Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese
Hu, Suwei
Zhong, Yanfang
Hao, Yuantao
Luo, Minqi
Zhou, Yan
Liao, Weijiao
Wei, Haiyun
Gao, Yueting
Shan, Jinglan
Hu, Bin
Hultén, Maj
Wang, Yiming
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.
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DOI
10.1515/CCLM.2009.284
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https://doi.org/10.1515/CCLM.2009.284
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