| Title: | Integration of transcriptome-wide association study and gene-based association analysis identifies candidate genes for Hodgkin lymphoma |
| Journal: | Journal of Cancer Research and Clinical Oncology |
| Published: | 1 May 2025 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/40392315/ |
| DOI: | https://doi.org/10.1007/s00432-025-06224-8 |
| URL: | https://link.springer.com/content/pdf/10.1007/s00432-025-06224-8.pdf |
Publication 15696
WARNING: the interactive features of this website use CSS3, which your browser does not support. To use the full features of this website, please update your browser.
Abstract
BackgroundGenome-wide association studies (GWASs) have pinpointed many susceptibility loci for Hodgkin Lymphoma (HL), but their underlying biological mechanisms remain unclear.MethodsUtilizing GWAS data from the UK Biobank and FinnGen, along with expression quantitative trait loci (eQTL) statistics from the Genotype-Tissue Expression (GTEx) and the eQTL Catalogue, we carried out a large-scale gene-level association study using Omnibus Transcriptome Test with Expression Reference Summary data (OTTERS), and gene-based analysis with eQTL Multi-marker Analysis of Genomic Annotation (E-MAGMA).ResultsWe identified sixteen susceptibility genes for HL (FDR < 0.01), primarily immune-related, including HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DRB1, HLA-DRB5, HLA-DMA, and HLA-DPB1, alongside genes involved in apoptosis, RNA processing, transcriptional regulation, and signal transduction. We identified five novel plausible genes, including HLA-DMA, HLA-DPB1, LSM2, AAR2, and NOTCH4.ConclusionThese findings highlight the role of the exogenous antigen presentation pathway in HL, shedding light on potential mechanisms.</p>
9 Keywords
- Biomarkers, Tumor
- Gene Expression Profiling
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Hodgkin Disease
- Humans
- Polymorphism, Single Nucleotide
- Quantitative Trait Loci
- Transcriptome
11 Authors
- Wen-Hui Jia
- Chang-Ling Huang
- Wen-Li Zhang
- Yong-Qiao He
- Wen-Qiong Xue
- Ying Liao
- Zhi-Yang Zhao
- Meng-Xuan Yang
- Lu Pei
- Wei-Hua Jia
- Tong-Min Wang
1 Application
| Application ID | Title |
|---|---|
| 58450 | Risk prediction and prognosis models based on genetic, environmental and clinical determinants for noncommunicable diseases |
Enabling scientific discoveries that improve human health