Institutes of Biomedical Sciences, Fudan University, Shanghai, PR China.
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, PR China.
PLoS One. 2014 Jan 21;9(1):e85043. doi: 10.1371/journal.pone.0085043. eCollection 2014.
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.
白细胞端粒长度（LTL）是衰老和许多与年龄相关疾病的预测因子。我们对 2632 个人的平均 LTL 进行了全基因组关联研究，在来自中国人群的 3917 个人中进行了两阶段复制。为了进一步验证我们的发现，我们从一个欧洲血统的队列中获得了 696 个样本的结果。我们确定了两个与 LTL 相关的位点，这些位点位于端粒酶逆转录酶（TERT；rs2736100，P=1.93×10(-5))上的染色体 5p15.33 和 12q13.13 附近的角蛋白 80（KRT80；rs17653722，P=6.96×10(-6))。在中国人群中，rs2736100 的每个 C 等位基因和 rs17653722 的 T 等位基因分别与平均端粒长度增加 0.026 和 0.059 T/S 相关，相当于大约 3 年和 7 年的平均年龄相关端粒损耗。我们的研究结果为端粒调节机制甚至与年龄相关疾病的发病机制提供了新的见解。
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