Genetics
CETP I405V variant shows a strong, first-reported association with ischemic stroke risk in a Caucasian population (J Stroke Cerebrovasc Dis 2018)
Original title: Cholesteryl Ester Transfer Protein Gene Polymorphism (I405V) and Risk of Ischemic Stroke
This study evaluated the association of the CETP I405V polymorphism with ischemic stroke, genotyping five hundred eighty stroke patients and 505 healthy controls. Comparing stroke and control groups, there was a significant increase in the V allele (OR 1.61, 95% CI 1.34-1.93) and VV genotype (OR 2.83, 95% CI 1.78-4.51) among stroke patients. No statistically significant differences in the association were found between stroke patients with and without type 2 diabetes mellitus (T2DM), nor between men and women when stratified by T2DM status. The authors conclude the I405V polymorphism is strongly associated with ischemic stroke independent of T2DM status, and report this as the first such association documented in a Caucasian population.
Original abstract
Background: Cholesteryl ester transfer protein (CETP) plays a major role in the metabolism of high-density lipoprotein. Polymorphisms in the CEPT gene can affect susceptibility to atherosclerosis and cardiovascular disease. The aim of this study was to evaluate the association of the CETP I405V polymorphism with ischemic stroke.
Methods: Five hundred eighty stroke patients and 505 healthy controls were involved in a study. Genomic DNA from all subjects was genotyped for the I405V polymorphism by polymerase chain reaction and restriction analysis.
Results: The comparison of stroke and control groups showed a significant increase of V allele and VV genotype in stroke patients (OR 1.61, 95% CI 1.34-1.93 and 2.83, 95% CI 1.78-4.51, respectively). The distribution of alleles and genotypes was also compared between stroke patients with type 2 diabetes mellitus (T2DM) and patients without it. No statistically significant differences were observed between two subgroups. The OR for V allele was 1.15, 95% CI .91-1.46 and for VV genotype 1.25, 95% CI .73-2.15. In comparison of these subgroups separately with controls, the results were similar to obtained for entire STR group. When the distribution of I405V polymorphism in relation to T2DM was analyzed in subgroups of men (n = 296) and women (n = 284) no statistically significant differences were observed.
Conclusion: Our results demonstrate that the I405V polymorphism in the CETP gene is strongly associated with ischemic stroke. The presence of T2DM did not affect this association. To our knowledge this is the first such association documented in Caucasian population.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.