Objective To investigate the relationship between CETP-629C/A polymorphism, serum Levels, lipid metabolism, and coronary heart disease (CHD) among the Chinese Han population of the Tianjin area.

Methods A hospital-based case-control study was conducted in Tianjin Chest Hospital from 2010 October to 2011 October. The subjects underwent angiography were divided into a case group (n = 429) and a control group (n = 275). The CETP gene promoter polymorphism at position –629 was determined by restricted fragment length polymorphism using the polymerase chain reaction (PCR-RFLP) method. Meanwhile the serum CETP level was determined by enzyme-linked immunosorbent assay (ELISA) method.

Results 1. The frequencies of-692Aallele in the Tianjin Chinese-Han population was 0.408, significantly lowerer than that in other domestic and foreign populations (0.479 ∼ 0.701, P < 0.05).2. Variant AA genotype showed reduced CETP levels (P > 0.05) and higher HDL-C levels (P < 0.05), compared to wild CC genotype.3. Although there was a negative trend correlation between serum CETP and HDL-C levels, it did not reach statistical significance (P > 0.05). 4. There were significant differences in frequencies of–692 genotypes and allele between the two groups (P < 0.001), carries with CA/AA genotype and A allele showed higher risk of CHD, its OR (95%CI) were 4.627(3.163 ∼ 6.769), 8.779(4.799 ∼ 16.059) and 3.173 (2.453 ∼ 4.104) respectively. There was no relationship between CETP-629C/A polymorphism and coronary artery stenosis degree.

Conclusions The frequencies of allele and genotype of CETP-629 inthe Tianjin Chinese-Han population was significantly different from that in other domestic and foreign populations. Variant AA genotype, which showed reduced CETP levels and higher HDL-C levels, is paradoxically associated with increased risk of CHD. Thus, CETP gene variation may affect coronary risk apart from the level of HDL-C.