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 (-1327)T/C polymorphism within the hTERT promoter region on the hTERT promoter activity and leukocyte telomere length in normal individuals. The promoter activity in the (-1327)T-sequence was significantly higher than that in the (-1327)C-sequence (p = 0.0004). For leukocyte telomere length, the (-1327)T-allele carriers had significantly longer than the (-1327)T-allele non-carriers (p = 0.0007). Also, there was no age-related shortening in leukocyte telomere length in the (-1327)T/T (p = 0.6633) and (-1327)T/C subjects (p = 0.1691), whereas there was clear age-related telomere shortening in the (-1327)C/C subjects (p = 0.0117). These findings suggest that the functional (-1327)T/C polymorphism of hTERT is associated with leukocyte telomere length in normal individuals.
Matsubara
Yumiko
Y
Department of Internal Medicine, School of Medicine, Keio University, Tokyo, Japan. yumikoma@sc.itc.keio.ac.jp
Murata
Mitsuru
M
Yoshida
Tadashi
T
Watanabe
Kiyoaki
K
Saito
Ikuo
I
Miyaki
Koichi
K
Omae
Kazuyuki
K
Ikeda
Yasuo
Y
D001483:Base Sequence; D002478:Cells, Cultured; D004268:DNA-Binding Proteins / Q000235:genetics*; D042783:Endothelial Cells / Q000378:metabolism*; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000378:metabolism*; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D019098:Telomerase / Q000235:genetics*; D016615:Telomere / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics*; D015533:Transcriptional Activation / Q000235:genetics*
D004268:DNA-Binding Proteins; D019098:Telomerase