Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett's esophagus and esophageal adenocarcinoma.

doi:10.1016/j.xhgg.2025.100399

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Article

Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett's esophagus and esophageal adenocarcinoma.

HGG advances - 10 Apr 2025

Yan Li, He Qianchuan, Verma Shiv P, Zhang Xu, Giel Ann-Sophie, Maj Carlo, Graz Kathryn, Naderi Elnaz, Chen Jianhong, Ali Mourad Wagdy, Gharahkhani Puya, Shu Xiang, Offit Kenneth, Shah Pari M, Gerdes Hans, Molena Daniela, Srivastava Amitabh, MacGregor Stuart, Palles Claire, Thieme René, Vieth Michael, Gockel Ines, Vaughan Thomas L, Schumacher Johannes, Buas Matthew F

Abstract excerpt

Inherited genetics represents an important contributor to risk of esophageal adenocarcinoma (EAC), and its precursor Barrett's esophagus (BE). Genome-wide association studies have identified ∼30 susceptibility variants for BE/EAC, yet genetic interactions remain unexamined. To address challenges in large-scale G×G scans, we combined knowledge-guided filtering and machine learning approaches, focusing on genes...

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Identifiers

PMID: 39755942
DOI: 10.1016/j.xhgg.2025.100399
PMCID: PMC11815673

Genes

BLK
CDKN2B
FAM167A

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