A comprehensive evaluation of candidate genetic polymorphisms in a large histologically characterized MASLD cohort using a novel framework
Our study provides a framework to prioritize evaluation of genetic polymorphisms for future replication efforts and demonstrates that in a large case-only cohort, histologic severity of MASLD is only robustly associated with the presence of variation in PNPLA3 among known candidate genes. These findings may have implications for patient risk stratification based on the presence of PNPLA3 rs738409.
Authors
- Niek Verweij (ORCID: https://orcid.org/0000-0002-4303-7685)
- David E. Kleiner (ORCID: https://orcid.org/0000-0003-3442-4453)
- Jingyi Tan (ORCID: https://orcid.org/0000-0003-4207-6516)
- Luca A. Lotta (ORCID: https://orcid.org/0000-0002-2619-5956)
- Rohit Seth Loomba (ORCID: https://orcid.org/0000-0002-4845-9991)
- Jeffrey B. Schwimmer (ORCID: https://orcid.org/0000-0001-8538-2877)
- Naga Chalasani (ORCID: https://orcid.org/0000-0003-4082-3178)
- Katherine P. Yates (ORCID: https://orcid.org/0000-0001-6138-2194)
- Aaron Hakim (ORCID: https://orcid.org/0000-0002-9752-8826)
- Kung-Hung Lin
- Xiuqing Guo
- Jerome I. Rotter
- Marco Abreu (ORCID: https://orcid.org/0000-0002-5659-1255)
- Tae-Hwi Schwantes-An
Institutions
- Broad Institute (US)
- Beth Israel Deaconess Medical Center (US)
- Johns Hopkins University (US)
- Regeneron (United States) (US)
- UCLA Medical Center (US)
- University of California San Diego (US)
- National Cancer Institute (US)
- Harbor–UCLA Medical Center (US)
- Indiana University School of Medicine
- Indiana University – Purdue University Indianapolis (US)
Publication Details
- Journal
- Hepatology Communications
- Published
- 2025-05-28
- DOI
- https://doi.org/10.1097/hc9.0000000000000728
- Citations
- 3
- Primary Topic
- Liver Disease Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 4.06