NCIt definition : Expressed in liver, human CETP B1 Allele is a variant form of CETP Gene (BPI/LBP Family),
which encodes Cholesterol Ester Transfer Protein, a secreted plasma protein involved
in the transfer of insoluble cholesteryl esters among lipoproteins in the reverse
transport of cholesterol, a vital step in normal cholesterol metabolism and homeostasis.
HDL cholesterol concentration is inversely related to the risk of coronary artery
disease. CETP has a central role in HDL metabolism and may affect susceptibility to
atherosclerosis; defects cause CETP deficiency. CETP B1 contains a polymorphic TaqI
restriction site in intron 1, absent in CETP B2. B2 individuals show lower CETP activity
and concentrations and higher plasma HDL-cholesterol; the B1 variant is associated
with higher CETP and lower HDL-cholesterol. Atherosclerotic progression is more prevalent
in B1 subjects than B2 subjects.;
OMIM relation