Accession PRJCA030332
Title Integration of single-cell cis-eQTL mapping with GWAS for identifying cell type-specific susceptibility genes of colorectal cancer
Relevance Medical
Data types Phenotype or Genotype
Single cell sequencing
Organisms Homo sapiens
Description The associations between genetic variants and gene expression have been widely investigated in bulk-level tissues of colorectal cancer, but whether there was heterogeneity in diverse cell types remain unclear. Here, leveraging the genotyping and single-cell RNA sequencing data of 53 paired colorectal tumor-normal tissues, we applied expression quantitative trait loci (eQTL) analysis to identify an average of over 30,000 significant SNP-gene pairs across diverse cell types; noteworthily, most eQTL effects were specific to one cell type, and only less than 25% of them could be replicated in bulk-level eQTL. Totally, our findings demonstrated the cell-type specificity in genetic control of gene expression, which could advance the understanding of genetic mechanisms involved in colorectal cancer susceptibility.
Sample scope Multiisolate
Release date 2024-09-25
Grants
Agency program Grant ID Grant title
National Natural Science Foundation of China (NSFC) General Program 81822039
Submitter Junyi Xin (junyixin@njmu.edu.cn)
Organization Nanjing Medical University
Submission date 2024-09-19

Project Data

Resource name Description