a Telomere Diagnostics, Inc. , Menlo Park , CA.
Crit Rev Clin Lab Sci. 2018 Nov;55(7):443-465. doi: 10.1080/10408363.2018.1504274. Epub 2018 Sep 28.
Telomere length measurement is increasingly recognized as a clinical gauge for age-related disease risk. There are several methods for studying blood telomere length (BTL) as a clinical biomarker. The first is an observational study approach, which directly measures telomere lengths using either cross-sectional or longitudinal patient cohorts and compares them to a population of age- and sex-matched individuals. These direct traceable measurements can be considered reflective of an individual's current health or disease state. Escalating interest in personalized medicine, access to high-throughput genotyping and resulting acquisition of large volumes of genetic data corroborates the second method, Mendelian randomization (MR). MR employs telomere length-associated genetic variants to indicate predisposition to disease risk based on the genomic composition of the individual. When assessed from cells in the bloodstream, telomeres can show variation from their genetically predisposed lengths due to environmental-induced changes. These alterations in telomere length act as an indicator of cellular health, which, in turn, can provide disease risk status. Overall, BTL measurement is a dynamic marker of biological health and well-being that together with genetically defined telomere lengths can provide insights into improved healthcare for the individual.
端粒长度测量越来越被认为是评估与年龄相关疾病风险的临床指标。有几种方法可以研究血液端粒长度（BTL）作为临床生物标志物。第一种是观察性研究方法，它直接使用横断面或纵向患者队列测量端粒长度，并将其与年龄和性别匹配的人群进行比较。这些可直接追踪的测量结果可以被认为反映了个体当前的健康或疾病状态。个性化医疗的兴趣日益增加，高通量基因分型的获得以及随之而来的大量遗传数据的获取证实了第二种方法，即孟德尔随机化（MR）。MR 利用与端粒长度相关的遗传变异来根据个体的基因组组成指示疾病风险的易感性。当从血液中的细胞进行评估时，由于环境诱导的变化，端粒可能与其遗传倾向的长度发生变化。端粒长度的这些变化是细胞健康的指标，反过来又可以提供疾病风险状况。总的来说，BTL 测量是生物健康和幸福感的动态标志物，与遗传定义的端粒长度一起，可以为个体提供改善医疗保健的见解。
