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

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 ABCA1 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 the ABCA1 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.