Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, People's Republic of China.
Department of Forensic Genetics, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, People's Republic of China.
Mol Genet Genomics. 2023 Sep;298(5):1073-1085. doi: 10.1007/s00438-023-02039-9. Epub 2023 Jun 7.
Age prediction is an important field in forensic and aging research. Traditional methods used DNA methylation, telomere shortening, and mitochondrial DNA mutations to conduct age prediction models. Sex chromosomes, like the Y chromosome, have a significant role in aging as previously reported in hematopoietic disease and many non-reproductive cancers. Until now, there is no age predictor based on the percentage of loss of Y chromosome (LOY). LOY has been previously revealed to be correlated with Alzheimer's disease, short survival, and higher risk of cancer. The possible correlation of LOY between normal aging was not fully explored. In this study, we conducted age prediction by measuring LOY percentage by droplet digital PCR (ddPCR), based on 232 healthy male samples, including 171 blood samples, 49 saliva samples, 12 semen samples. The age group of samples ranges from 0 to 99 years, with two individuals in almost every single age. Pearson correlation method was performed to calculate the correlation index. The result indicated a correlation index of 0.21 (p = 0.0059) between age and LOY percentage in blood samples, with the regression formula being y = - 0.016823 + 0.001098x. The correlation between LOY percentage and age is obvious only when the individuals were divided into different age groups (R = 0.73, p = 0.016). In the studied saliva and semen samples, p-values of the correlation are 0.11 and 0.20, respectively, showing no significant association between age and LOY percentage in these two biological materials. For the first time, we investigated male-specific age predictor based on LOY. The study showed that LOY in leukocytes can be regarded as a male-specific age predictor for age group estimation in forensic genetics. This study might be indicative for forensic applications and aging research.
年龄预测是法医学和衰老研究中的一个重要领域。传统方法使用 DNA 甲基化、端粒缩短和线粒体 DNA 突变来构建年龄预测模型。性染色体，如 Y 染色体，在造血疾病和许多非生殖癌症中，正如之前报道的那样，在衰老中起着重要作用。到目前为止，还没有基于 Y 染色体丢失百分比（LOY）的年龄预测器。LOY 先前已被揭示与阿尔茨海默病、较短的存活时间和更高的癌症风险相关。LOY 在正常衰老中的可能相关性尚未得到充分探索。在这项研究中，我们通过使用液滴数字 PCR（ddPCR）测量 LOY 百分比来进行年龄预测，基于 232 名健康男性样本，包括 171 份血液样本、49 份唾液样本和 12 份精液样本。样本的年龄组从 0 岁到 99 岁不等，几乎每个年龄段都有两个人。采用 Pearson 相关法计算相关指数。结果表明，血液样本中年龄与 LOY 百分比之间的相关指数为 0.21（p=0.0059），回归公式为 y=-0.016823+0.001098x。只有当个体被分为不同的年龄组时，LOY 百分比与年龄之间的相关性才明显（R=0.73，p=0.016）。在所研究的唾液和精液样本中，相关的 p 值分别为 0.11 和 0.20，表明在这两种生物材料中，年龄与 LOY 百分比之间没有显著关联。这是首次基于 LOY 调查男性特异性年龄预测器。研究表明，白细胞中的 LOY 可作为法医遗传学中年龄组估计的男性特异性年龄预测器。本研究可能对法医学应用和衰老研究具有指示意义。
