克罗恩病与卵巢癌发病风险的因果关联一项两样本孟德尔随机化方法的探究

目的 本文通过孟德尔随机化（Mendelian randomization,MR）方法，探究克罗恩病（Crohn disease,CD)与卵巢癌（ovarian cancer)两种疾病间发病的因果关系。方法 从克罗恩病的全基因组关联研究数据（genome wide association study,GWAS）中提取出合适的单核苷酸多态性（single nucleotide polymorphism,SNP）作为基因工具变量，利用逆方差加权法、加权中值方法和MR-Egger法探究克罗恩病与卵巢癌发病风险的因果关联。分析结果以比值比和95%可信区间显示，以比值比评价克罗恩病与卵巢癌之间的因果关系。结果 共筛选到110个与克罗恩病相关的SNP，逆方差加权分析法显示克罗恩病和卵巢癌之间存在因果关系(OR=1.11,95%Cl 1.04～1.19),加权中值法(OR=1.14,95%Cl 1.03～1.26)计值进一步肯定CD是卵巢癌发病的危险因素。水平多效性、异质性检验及留一法显示工具变量不会对结果造成偏倚。结论CD与卵巢癌之间存在正向因果关联。加强CD患者卵巢癌相关指标的筛查，预防患者卵巢...

The causal association between Crohn disease and the risk of ovarian cancer: a two-sample Mendelian randomization

Objective To explore the causal relationship between Crohn disease (CD) and ovarian cancer using Mendelian randomization study. Methods Single nucleotide polymorphisms (SNPs) were extracted as instrumental variables from genome-wide association studies of Crohn disease. The causal association between Crohn disease and the risk of ovarian cancer was investigated by using three Mendelian randomization analysis methods: inverse variance weighted analysis, weighted median method, and MR-Egger method. The odds ratio (OR) and 95% confidence interval (CI) were derived to evaluate the causal relationship between CD and ovarian cancer. Results A total of 110 SNPS related to CD were included. The results of inverse variance weighting method (OR=1.11, 95%CI: 1.04-1.19) and weighted median method (OR=1.14, 95%CI: 1.03-1.26) showed that CD was causally associated with ovarian cancer. Sensitivity analysis showed that gene pleiotropic test and “leave-one-out” sensitivity analysis showed that instrumental variables did not bias the results. Conclusion There is a positive causal association between CD and ovarian cancer. It is of great significance to strengthen the screening of ovarian cancer related indicators in patients with CD to prevent the occurrence of ovarian cancer and improve the prognosis.