Genetic variation, a T-1327/C polymorphism, of human telomerase reverse transcriptase (hTERT) is associated with leukocyte telomere length in healthy subjects, but clinical significances of this functional polymorphism are not clear. Recently, the relationship between the telomere system and coronary artery disease (CAD) was reported. We investigated the association between the T-1327/C polymorphism and (a) susceptibility to CAD and (b) telomere length in CAD patients. In a case-control study, 104 patients confirmed by coronary angiography and 115 age- and sex-matched controls were enrolled. There was a higher frequency of the C-1327/C genotype in CAD patients (51.91%) compared with controls (36.5%, p = 0.0218). Among the 104 CAD patients, leukocyte telomere length in the C-1327/C genotype (7.62 +/- 2.19 kb, mean +/- SD) was shorter than that in the T-1327/C and T-1327/T genotypes (8.74 +/- 2.92, p = 0.0287). These findings suggest that the C-1327/C genotype is a genetic risk factor for CAD and relates to shorter telomere length among CAD patients. (c) 2006 Elsevier Inc. All rights reserved.