Leukocyte telomere length (LTL) is a predictor of aging and a number of age-related diseases. We performed genome-wide association studies of mean LTL in 2632 individuals,with a two-stage replication in 3917 individuals from Chinese populations. To further validate our findings, we get the results of 696 samples from a cohort of European ancestry. We identified two loci associated with LTL that map in telomerase reverse transcriptase (TERT; rs2736100, P = 1.93×10−5) on chromosome 5p15.33 and near keratin 80 (KRT80; rs17653722, P = 6.96×10−6) on 12q13.13. In Chinese population each C allele of rs2736100 and T allele of rs17653722 was associated with a longer mean telomere length of 0.026 and 0.059 T/S, respectively, equivalent to about 3 and 7 years of average age-related telomere attrition. Our findings provide new insights into telomere regulatory mechanism and even pathogenesis of age-related diseases.
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Liu, Yun; Cao, Lan; Li, Zhiqiang; Zhou, Daizhan; Liu, Wanqing; Shen, Qin; Wu, Yanting; Zhang, Dan; Hu, Xun; Wang, Ting; Ye, Junyi; Weng, Xiaoling; Zhang, Hong; Zhang, Di; Zhang, Zhou; Liu, Fatao; He, Lin; and Shi, Yongyong, "A Genome-Wide Association Study Identifies a Locus on TERT for Mean Telomere Length in Han Chinese." (2014). Department of Medicinal Chemistry and Molecular Pharmacology Faculty Publications. Paper 6.