中国南北方汉族人群DNA甲基化表观遗传差异研究

Epigenetic Differences Research of DNA Methylation in Northern and Southern Chinese Han Populations

目的族群地域、体貌特征等表型是基因型与环境共同作用的结果。大量基因组学研究表明,汉族人群具有混合特征,内部存在明显的南北遗传差异。本研究旨在探索研究表观基因组在中国南北方汉族人群之间是否存在差异,并筛选差异遗传位点。方法使用GLINT软件对483份汉族样本的全基因组甲基化芯片数据进行EWAS分析,使用Lasso回归方法筛选位点。使用多元逻辑回归算法构建南北方汉族人群预测模型,通过十折交叉验证的方法评估。结果筛选出一组南北方汉族之间差异显著的CpG位点,准确性为99.03%,Kappa系数为0.9796。结论本研究表明南北方汉族人群之间存在表观遗传差异,本研究为进一步开展不同地域汉族人群之间的表观遗传差异研究奠定了基础。

Objective The phenotypes of population,such as biogeographical and physical characteristics,are the result of the interaction between genotype and environment.A large number of genomic studies have shown that the Han Chinese are admixed population which displayed obvious genetic differences between the north and the south.The purpose of this study is to explore whether there are differences in epigenomes between northern and southern Han populations,and to screen biogeographical specific genetic loci.Methods Glint software was used to perform epigenome-wide association study(EWAS)analysis on genome-wide methylation microarray data of 483 Han Chinese individuals,and Lasso regression was used to screen the sites.Multiple logistic regression algorithm was used to construct the prediction model for the Han population in the south and the north,and the evaluation was conducted by the method of 10-fold cross validation.Results A group of CpG sites with significant differences between southern and northern Han populations were screened out,with accuracy of 99.03%and Kappa of 0.9796.Conclusion This study shows that there are epigenetic differences between the southern and northern Han populations,which lays a foundation for further studies on epigenetic differences between the Han populations in different regions.