DNA甲基化年龄推断模型在华东汉族人群中的跨平台应用

Cross-Platform Application of DNA Methylation Age Estimation Model in Eastern Chinese Han Population

目的评估基于DNA甲基化年龄推断模型在华东汉族人群中的法医学应用价值,为探索适用于不同检测平台的年龄推断模型提供理论依据。方法根据已发表的中国汉族人群血液DNA甲基化年龄推断模型中6个年龄相关甲基化位点,使用焦磷酸测序和下一代测序(next-generation sequencing,NGS)技术分别检测48例样本的DNA甲基化水平,分别将其代入年龄推断模型后计算预测年龄,并与真实年龄进行比较。结果两种检测技术下6个甲基化位点都与年龄相关,使用焦磷酸技术的R2为0.85,平均绝对误差(me⁃dian absolute deviation,MAD)为4.81岁,使用NGS技术的R2为0.84,MAD=4.41岁。结论该血液DNA甲基化年龄推断模型可以在焦磷酸测序与基于NGS的多重目的区域甲基化富集测序技术下使用,并能够较为准确地推断年龄。

Objective To evaluate the forensic application value of an age estimation model based on DNA methylation in eastern Chinese Han population,and to provide a theoretical basis for exploring age estimation models suitable for different detection platforms.Methods According to the 6 age-related methylation sites in the published blood DNA methylation age estimation models of Chinese Han population,the DNA methylation level of 48 samples was detected by pyrosequencing and next-generation sequencing(NGS).After submitting DNA methylation levels to the age estimation model,the DNA methylation ages were predicted and compared with their real ages.Results The 6 DNA methylation sites in both detection techniques were age-related,with an R2 of 0.85 and a median ab-solute deviation(MAD)of 4.81 years when using pyrosequencing;with an R2 of 0.84 and MAD of 4.41 years when using NGS.Conclusion The blood DNA methylation age estimation model can be used under pyrosequencing and multi-purpose regional methylation enrichment sequencing technology based on NGS and it can accurately estimate the age.