Genetics
CETP levels are elevated in Chinese heart attack and stroke patients, while CETP-deficient carriers show a favorable lipid profile despite low CETP mass (Chin Med J 2002)
Original title: Cholesteryl ester transfer protein levels and gene deficiency in Chinese patients with cardio-cerebrovascular diseases
This study measured CETP levels, frequencies of the CETP D442G and I14A mutations, and lipid characteristics in ninety-four myocardial infarction (MI) patients, 110 stroke patients, and 335 healthy controls in China, using ELISA for CETP concentration, a radiolabeled substrate assay for activity, and PCR-RFLP for mutation detection. CETP concentration was higher in MI and stroke patients than controls. Mutation frequencies did not differ significantly between groups: D442G was 3.5%, 3.6%, and 5% in MI, stroke, and control groups, and I14A was 1.05%, 0.91%, and 1% respectively, with one D442G homozygote found in the healthy group. CETP concentration and activity in mutation carriers were about one-third of control levels, while HDL-cholesterol and apoA1 were increased and triglycerides decreased in these carriers. The authors conclude CETP levels are significantly elevated in cardio-cerebrovascular disease patients, and CETP deficiency carriers show characteristic CETP and lipid abnormalities.
Original abstract
Objective: To detect cholesteryl ester transfer protein (CETP) levels, frequencies of CETP D442G and I 14A mutations and characteristics of abnormal lipids in patients with cardio-cerebro vascular diseases.
Methods: Ninety-four myocardial infarction (MI) patients, 110 stroke patients and 335 healthy controls were selected. The CETP concentration was determined using ELISA. The CETP activity was measured using a substrate of (14)C-radiolabeled discoidal bilayer particles. The CETP gene mutations were detected by PCR-RFLP.
Results: The CETP concentrations in the MI and stroke group, were higher than those in the controls. The gene mutation frequencies of D442G in the MI, stroke and control group were 3.5%, 3.6% and 5%, respectively, and the frequencies of I 14A were 1.05%, 0.91% and 1%, respectively. One case of D442G homozygote was detected in the healthy group. The frequency of two CETP gene mutations showed no significant difference among the patients and controls. The CETP concentration and activity in subjects with CETP mutations were one-third of those in the control group. The level of HDL-C, apo-A1 increased in the mutation subjects, while the TG level decreased.
Conclusions: The CETP level increased significantly in patients with cardio-cerebrovascular diseases. The carriers of CETP deficiency had CETP and lipid abnormalities.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.