Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia

Mary B. Engler, Clive R. Pullinger, Mary J. Malloy, Yanina Natanzon, Medha V. Kulkarni, James Song, Celeste Eng, Jaarko Huuskonen, Christopher Rivera, Annie Poon, Matt Bensley, Amy Sehnert, Christian Zellner, John Kane, Bradley E. Aouizerat

Research output: Contribution to journalArticlepeer-review


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: 1 previously reported variation (rs2294213) and 5 novel mutations including 1 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.

Original languageEnglish (US)
Pages (from-to)1719-1724
Number of pages6
JournalMetabolism: Clinical and Experimental
Issue number12
StatePublished - Dec 2008

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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