Telomere length of normal leukocytes is affected by a functional polymorphism of hTERT

Transcriptional regulation of human telomerase reverse transcriptase (hTERT), a catalytic subunit of telomerase, is essential for telomerase activity associated with telomere length. In this study, we investigated the effects of a −1327T/C polymorphism within the hTERT promoter region on the hTERT promoter activity and leukocyte telomere length in normal individuals. The promoter activity in the −1327T-sequence was significantly higher than that in the −1327C-sequence (p = 0.0004). For leukocyte telomere length, the −1327T-allele carriers had significantly longer than the −1327T-allele non-carriers (p = 0.0007). Also, there was no age-related shortening in leukocyte telomere length in the −1327T/T (p = 0.6633) and −1327T/C subjects (p = 0.1691), whereas there was clear age-related telomere shortening in the −1327C/C subjects (p = 0.0117). These findings suggest that the functional −1327T/C polymorphism of hTERT is associated with leukocyte telomere length in normal individuals.