Genetics
Combining CETP B2B2 with an ABCA1 variant produces the largest HDL cholesterol gap seen in a Chinese cohort of nearly 1 mmol/L (Acta Cardiol 2011)
Original title: Differential effect of ATP binding cassette transporter A1 R219K and cholesteryl ester transfer protein TaqIB genotypes on HDL-C levels in overweight/obese and non-obese Chinese subjects
This study examined the association of ABCA1 R219K and CETP Taq1B and -629C>A polymorphisms with overweight/obesity and HDL-cholesterol (HDL-C) in three hundred and thirty-eight Han Chinese subjects (206 overweight/obese, 132 normal controls) from Chengdu, using PCR-RFLP analysis. Genotype and allele frequencies did not differ significantly between overweight/obese and control groups for either gene. However, ABCA1 KK genotype carriers had statistically higher HDL-C than RR carriers, and CETP B2B2 genotype controls had marginally higher HDL-C than B1B1 carriers. The combined ABCA1/CETP genotype effect was evident in controls: KK/B2B2 carriers had the highest HDL-C (2.23 plus or minus 0.91 mmol/L) while RR/B1B1 carriers had the lowest (1.32 plus or minus 0.33 mmol/L), with significant differences between KK/B2B2 and every other genotype combination (all P less than 0.05). The authors conclude ABCA1 and CETP polymorphisms are associated with altered HDL-C, modified by BMI, in this population.
Original abstract
Objectives: ATP-binding cassette transporter A1 (ABCA1) and cholesteryl ester transfer protein (CETP) are involved in the HDL metabolism and play a key role in reverse cholesterol transport. The study aim was mainly to examine the possible association of the ABCA1 and CETP polymorphisms with overweight/obesity in a South-West Chinese population.
Methods And Results: Three hundred and thirty-eight Han Chinese (206 overweight/obese and 132 normal control subjects) in Chengdu area were studied using the PCR-RFLP analysis. The genotype and allele frequencies of the ABCA1 R219K, CETP Taq IB and -629C > A polymorphisms in cases of overweight/obesity showed no significant statistical difference compared to those of the control subjects. However, on analysis of the HDL-C levels, cases showed statistically higher levels among those carrying the ABCA 1 KK genotype compared to RR genotype carriers, and controls having the CETP B2B2 genotype had a marginally significantly higher serum HDL-C concentration than those of the B1B1 genotype. In addition, the combined genotype effect of the ABCA1 R219K and the CETP Taq IB polymorphisms on HDL-C levels was evident in the control subjects: the carriers of the KK/B2B2 genotype showed the highest levels of HDL-C (2.23 +/- 0.91 mmol/L), whereas those of the RR/B1B1 genotype showed the lowest (1.32 +/- 0.33 mmol/L). There were significant differences of the HDL-C levels between subjects with genotype KK/B2B2 and those with each of the other genotype combinations (all P < 0.05).
Conclusion: Polymorphisms of theABCA1 and CETP genes are associated with altered plasma HDL-C concentrations.These associations on HDL-C levels are modified by BMI in a Chinese population of the Chengdu area.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.