多囊卵巢综合征与桥本甲状腺炎关键基因的识别及通路分析

Identification the key genes and pathways between polycystic ovary syndrome and hashimoto thyroiditis

目的 多囊卵巢综合征与桥本甲状腺炎同属于内分泌疾病,病因尚不明确且临床表现有许多相似之处,分析多囊卵巢综合征和桥本甲状腺炎的差异基因,探索两种疾病的致病基因及相关通路分析,从基因层面明确多囊卵巢综合征和桥本甲状腺炎共同致病的原因。方法 在公开数据库GEO数据库,检索多囊卵巢综合征及桥本甲状腺炎表达谱芯片。通过在线GEO2R工具及R软件识别差异基因,取两者差异基因交集,构建维恩图,寻找共同致病基因,对获得的基因进行生物信息学分析(GO分析及KEGG信号通路分析),构建PPI网络,寻找hub基因。结果 多囊卵巢综合征及桥本甲状腺炎分别检索到1个基因芯片数据集,找到共同致病基因共126个,与免疫调节、免疫应答、炎症等相关,前7个hub基因是BTK、CCL2、CYBB、FCER1G、HCK、FCGR2B、CCR7。结论 多囊卵巢综合征及桥本甲状腺炎存在共同致病基因,进而介导相关信号通路改变,促进多囊卵巢综合征和桥本甲状腺炎高发及两种疾病可并存现象。

Objective Polycystic ovary syndrome(PCOS) and Hashimoto thyroiditis are endocrine diseases,with unclear etiology and similar clinical manifestations.We aimed to explore the key genes and related pathways between two diseases,and clarify the pathogenic causes of PCOS and Hashimoto thyroiditis from the gene level.Methods The expression profiles of polycystic ovary syndrome and Hashimoto thyroiditis were searched in GEO database.The online GEO2R tool and R software were used to identify the differential genes,and the intersection of the differential genes was used to construct a Venn diagram to search the common pathogenic genes.Bioinformatics analysis(GO analysis and KEGG signal pathway analysis) was conducted for the obtained genes,and a PPI network was constructed to search for hub genes.Results One gene dataset was retrieved for polycystic ovary syndrome and Hashimoto thyroiditis respectively.We found 126 common genes related to immune regulation,immune response,inflammation and so on,and the top 7 hub genes were BTK,CCL2,CYBB,FCER1G,HCK,FCGR2B,CCR7.Conclusion There are common pathogenic genes in PCOS and Hashimoto thyroiditis,which further may mediate the changes of related signal pathways and promote the high incidence of Hashimoto thyroiditis and PCOS and the co-existence of the two diseases.