Genetics
A lower CETP B2 allele frequency in Valencia may help explain the unexpectedly high heart disease rate in the region (Atherosclerosis 2000)
Original title: Association of TaqIB polymorphism in the cholesteryl ester transfer protein gene with plasma lipid levels in a healthy Spanish population
This study examined allele frequencies and lipid associations for the common CETP TaqIB polymorphism in 514 healthy Spanish subjects (231 men, mean age 37.4; 283 women, mean age 35.7) residing in Valencia. The less common TaqIB2 allele frequency (0.351, 95% CI 0.322-0.380) was significantly lower than reported for Northern European populations. Consistent with prior studies, B1B1 homozygotes had lower HDL-cholesterol than B2 carriers (P trend less than 0.001 in men, 0.002 in women); no other lipid measures showed significant genotype effects. In multivariate models including behavioral covariates, TaqIB genotype remained an independent predictor of HDL-cholesterol (P less than 0.001), explaining 5.8% of its variance, with no significant gene-environment interactions detected for smoking, alcohol, physical activity, or education. The authors suggest the lower TaqIB2 frequency in this population could contribute to the unexpectedly high coronary heart disease prevalence observed in the Valencia region.
Original abstract
Genetic variants at the cholesteryl ester transfer protein (CETP) locus have been associated with CETP activity and mass, as well as plasma high density lipoprotein cholesterol (HDL-C) and apolipoprotein A-I levels. We have examined allele frequencies and lipid associations for the common CETP TaqIB polymorphism in a sample of 514 healthy subjects (231 men, mean age 37.4 years, and 283 women, mean age 35.7 years) residing in Valencia (Spain). The frequency of the less common TaqIB2 allele (0.351; 95% CI: 0.322-0. 380) was significantly lower than those reported for Northern European populations. Consistent with previous studies, we found a significant association of the TaqIB polymorphism with HDL-C levels. Homozygotes for the B1 allele had lower HDL-C levels than subjects carrying the B2 allele (P trend<0.001 and 0.002, for men and women, respectively). No statistically significant genotype effects were observed for any of the other lipid measures. Multivariate models including TaqIB genotype, body mass index, smoking, alcohol, physical activity, marital status and education were fitted to predict HDL-C levels. The TaqIB polymorphism was consistently an independent predictor of HDL-C levels (P<0.001), and explained 5.8% of its variance. To evaluate gene-environmental interactions, first order interaction terms were tested into the multivariate model. No statistically significant interactions between the TaqIB genotypes and smoking, alcohol, physical activity or education were detected. In conclusion, we observed a significant association of the TaqIB polymorphism with HDL-C levels, which remained consistent across different levels of behavioral factors. Moreover, we found that the TaqIB2 allele frequency was lower in our sample than in other European populations, which could be a contributing factor to the unexpectedly high prevalence of coronary heart disease observed in the region of Valencia.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.