MPC Member Publications

This database contains a listing of population studies publications written by MPC Members. Anyone can add a publication by an MPC student, faculty, or staff member to this database; new citations will be reviewed and approved by MPC administrators.

Full Citation

Title: Multi-ancestry transcriptome-wide association study identifies candidate genes associated with hepatoblastoma

Citation Type: Journal Article

Publication Year: 2025

ISSN: 1055-9965

DOI: 10.1158/1055-9965.EPI-24-1553

Abstract: <p>Background: Hepatoblastoma (HB) is a rare embryonal liver tumor, with a rising global incidence that underscores the need to understand its genetic etiology. Methods: Utilizing the ancestry-matched expression quantitative loci data, we performed a HB transcriptome-wide association study (TWAS) on 4539 Europeans, 1047 Latinos, and 378 African Americans (~1:10 cases control ratio). We conducted a multi-ancestry transcriptome-wide analysis (METRO) meta-analysis followed by METRO-EGGER sensitivity analysis and ancestry-specific gene set enrichment analyses. We further explored genes with additional evidence gathered from independent cohorts and databases. Results: Across the three ancestries, the discovered genes shared the same effect direction across ancestries. A meta-analysis of the three ancestries identified 28 genes significantly associated with HB risk, and 15 were nominally significant for at least two ancestries. Our post-TWAS analyses highlighted eight genes among these 28, including OXER1 (meta-analysis p-value=7.3410-6), FADS1 (p-value=4.0110-6), and UGDH (p-value=5.2910-8), which were expressed in fetal liver hepatoblast cells and were differentially expressed in tumor and normal tissues in an independent Japanese HB study (p-values=2.6110-13, 3.6210-3 , and 1.9510-9, respectively). Conclusions: We pinpoint eight potential genes associated with HB using data from an ongoing multi-ancestry genome-wide association study. Impact: We conducted the largest HB TWAS to date, prompting further exploration of genes.</p>

Url: /cebp/article/doi/10.1158/1055-9965.EPI-24-1553/762854/Multi-ancestry-transcriptome-wide-association

Url: https://dx.doi.org/10.1158/1055-9965.EPI-24-1553

User Submitted?: No

Authors: Sorenson, Josey C; Spector, Logan G; Pankratz, Nathan; Stephanie Huang, R; Hiyama, Eiso; Poynter, Jenny N; Tomlinson, Gail E; Armengol, Carolina; Kappler, Roland; Scheurer, Michael E; Roman, Eve; Castellano, Aurora; Grotzer, Michael A; Basu, Saonli; Marcotte, Erin L; Yang, Tianzhong; Therapy, Gene; Ospedale Pediatrico Bambino Gesù, Irccs

Periodical (Full): Cancer Epidemiology, Biomarkers & Prevention

Issue: 7

Volume: 20

Pages:

Countries:

IPUMS NHGIS NAPP IHIS ATUS Terrapop