Cancer-mbQTL

This study systematically identified 38,660 mbQTLs across cancers, ranging 50 in endometrial carcinoma to 3,133 in thyroid carcinoma. Furthermore, a strong enrichment of mbQTLs was observed among transcription factor binding sites and chromatin regulatory elements, such as H3K27ac. Notably, mbQTLs were significantly enriched in cancer genome-wide association studies (GWAS) loci and explained an average of 2% for cancer heritability, indicating that mbQTLs could provide additional insights into cancer etiology. Correspondingly, 24,443 mbQTLs overlapping with GWAS linkage disequilibrium regions were identified. Survival analyses identified 318 mbQTLs associated with patient overall survival.本研究系统性地在多种癌种中鉴定出38660个甲基化数量性状位点（mbQTLs），其数量分布范围从子宫内膜癌的50个至甲状腺癌的3133个不等。进一步分析发现，mbQTLs在转录因子结合位点及组蛋白H3赖氨酸27乙酰化（H3K27ac）等染色质调控元件中存在显著富集。值得注意的是，mbQTLs在癌症全基因组关联研究（Genome-Wide Association Studies, GWAS）位点中显著富集，且平均可解释2%的癌症遗传力，表明mbQTLs可为癌症病因学研究提供新的视角。相应地，本研究共鉴定出24443个与GWAS连锁不平衡区域重叠的mbQTLs。生存分析进一步鉴定出318个与患者总生存期显著相关的mbQTLs。

搜集汇总

背景与挑战

背景概述

Cancer-mbQTL是一个专注于癌症微生物组数量性状位点（mbQTL）的数据库，基于32种癌症类型系统识别了与肿瘤微生物丰度相关的遗传变异。该数据集包含38,660个mbQTLs，其中24,443个与GWAS区域重叠，318个与患者总体生存相关，并提供浏览、搜索和下载功能以支持癌症病因研究。