Journal
METABOLISM-CLINICAL AND EXPERIMENTAL
Volume 57, Issue 12, Pages 1719-1724Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.metabol.2008.07.031
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Funding
- National Institutes of Health (NIH) [T32 HL07731, K01 NR07888, AA11205, HL50779, HL50782]
- American Heart Association [0465005Y]
- BEA
- Pfizer
- Joseph Drown Foundation
- Valentine Foundation
- Foundation Leducq
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We previously demonstrated the role of a phospholipid transfer protein (PLTP) gene variation (rs2294213) in determining levels of high-density lipoprotein cholesterol (HDL-C) in hypoalphalipoproteinemia (HypoA). We have now explored the role of PLTP in hyperalphalipoproteinemia (HyperA). The human PLTP gene was screened for sequence anomalies by DNA melting in 107 subjects with HyperA. The association with plasma lipoprotein levels was evaluated. We detected 7 sequence variations: I previously reported variation (rs2294213) and 5 novel Mutations including I missense mutation (L106F). The PLTP activity was unchanged in the p.L106F mutation. The frequency of the rs2294213 minor allele was markedly increased in the HyperA group (7.0%) in comparison with a control group (4.3%) and the hypoalphalipoproteinemia group (2.2%). Moreover, rs2294213 was strongly associated with HDL-C levels. Linear regression models predict that possession of the rs2294213 minor allele increases HDL-C independent of triglycerides. These findings extend the association of rs2294213 with HDL-C levels into the extremes of the HDL distribution. (C) 2008 Elsevier Inc. All rights reserved.
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