运用全基因组DNA甲基化技术对内蒙古地区特禀体质人群与过敏性疾病的关系进行研究

Study of the Relationship between the Specific Endowment Constitution in Inner Mongolia and Allergic Diseases Based on Genome-Wide DNA Methylation Technology

摘要: 目的：为研究特禀体质与过敏性疾病之间的联系提供研究基础，本研究运用全基因组DNA甲基化技术研究了内蒙古地区特禀体质和平和体质人群的差异甲基化基因。方法：在前期流行病学调查及中医体质辨识量表筛选的基础之上，选取了特禀体质及平和体质各2例受试者进行全基因组DNA甲基化测序，并选取差异基因进行qPCR验证。结果：实验共获得47150个差异甲基化读数，qPCR验证结果显示，与平和体质比较特禀体质XKR6、PLCL1在白细胞中的表达量均降低(P < 0.05)。结论：1) 本实验通过运用全基因组DNA甲基化方法对特禀体质及平和体质进行研究，共确定了47,150个基因，各种甲基化类型中，甲基化区域均主要位于内含子区且比值较高。2) qPCR验证结果与基因高度甲基化结果一致，表明特禀体质人群基因差异甲基化，可能是导致相关基因表达异常的原因之一，是易罹患过敏性疾病的关键。3) 本实验对内蒙古地区特禀体质人群差异甲基化基因的研究，为地区过敏性疾病患者的预防及治疗提供了理论依据，同时为特禀体质与过敏性疾病之间的关系提供研究基础。

Abstract: Objective: To provide a research basis for the study of the relationship between the specific endowment constitution and allergic diseases. This study used genome-wide DNA methylation technology to study differential methylation genes in the peace and special physique population of special traits in Inner Mongolia. Methods: Based on the pre-epidemic investigation and the screening of TCM physique identification scale, 2 subjects of special physique and physique were selected for whole-genome DNA methylation sequencing, and differential genes were selected for qPCR verification. Results: A total of 47,150 differential methylation readings were obtained in the experiment. qPCR results showed that the expression levels of XKR6 and PLCL1 in leukocytes were decreased in peace physique compared with the special physique (P < 0.05). Conclusion: 1) This experiment used the genome-wide DNA methylation method to study the special physique and the peace physique. A total of 47,150 genes were identified. Among the various methylation types, the methylation regions were mainly located in introns. The area has a higher ratio. 2) The results of qPCR verification are consistent with the results of high methylation of genes, indicating that the differential methylation of genes in the scorpion population may be one of the causes of abnormal expression of related genes, and it is the key to susceptible allergic diseases. 3) The study of differential methylation genes in the special physique population in Inner Mongolia provides a theoretical basis for the prevention and treatment of patients with regional allergic diseases, and provides a research basis for the relationship between special physique and allergic diseases.