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Suhy A, Hartmann K, Papp AC, Wang D, Sadee W. Regulation of cholesteryl ester transfer protein expression by upstream polymorphisms: reduced expression associated with rs247616. Pharmacogenetics and genomics. 2015 Aug;25(25). 394-401. NIHMSID: NIHMS691206.
Abstract
Cholesteryl ester transfer protein (CETP) is involved in reverse cholesterol transport by exchanging cholesteryl esters for triglycerides between high-density lipoprotein and low-density lipoprotein particles, effectively decreasing high-density lipoprotein cholesterol levels. Variants within a large haplotype block upstream of CETP (rs247616, rs173539) have been shown to be significantly associated with reduced expression; however, the underlying mechanism has not been identified.