Evidence map›Paper›PMID 40562914›Full record

ArticleNature genetics2025

Single-cell eQTL analysis identifies genetic variation underlying metabolic dysfunction-associated steatohepatitis.

Sung Eun Hong, Seon Ju Mun, Young Joo Lee, Taekyeong Yoo, Kyung-Suk Suh, Keon Wook Kang, Myung Jin Son, Won Kim, Murim Choi

Abstract read
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In one paragraph

Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

19 citing papers in PubMed.

  1. Article
  2. Cell Type-Specific Roles of TBK1 in Steatotic Liver Disease: Evidence for an Inflammatory TBK1Liver international : official journal of the International Association for the Study of the Liver · 2026
    Article
  3. Precision pathophysiology in steatotic liver disease.Clinical and molecular hepatology · 2026
    Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
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  12. Excessive CabioRxiv : the preprint server for biology · 2026
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Sung Eun HongDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0003-3437-8936
Seon Ju MunStem Cell Convergence Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon, Republic of Korea.
Young Joo LeeCollege of Pharmacy and Research Institute of Pharmaceutical Sciences, Seoul National University, Seoul, Republic of Korea.
Taekyeong YooDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kyung-Suk SuhDepartment of Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Keon Wook KangCollege of Pharmacy and Research Institute of Pharmaceutical Sciences, Seoul National University, Seoul, Republic of Korea.
Myung Jin SonStem Cell Convergence Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon, Republic of Korea.
Won Kim *Division of Gastroenterology and Hepatology, Department of Internal Medicine, Seoul Metropolitan Government Boramae Medical Center, Seoul National University College of Medicine, Seoul, Republic of Korea. drwon1@snu.ac.kr.ORCID http://orcid.org/0000-0002-2926-1007
Murim Choi *Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea. murimchoi@snu.ac.kr.ORCID http://orcid.org/0000-0002-9195-1455

Funding

Korea Health Industry Development Institute (KHIDI) MD-PhD/Medical Scientist Training ProgramNational Research Foundation of Korea (NRF) 2021-M3A9E4021818National Research Foundation of Korea (NRF) 2021R1A2C2005820National Research Foundation of Korea (NRF) 2021-R1A2C3014067National Research Foundation of Korea (NRF) 2023-00207857
6 · The paper itself

Abstract

Metabolic dysfunction-associated steatotic liver disease (MASLD) is increasingly recognized for its medical and socioeconomic impacts, driven by diverse genetic and environmental factors. Here, to address the urgent need for individually tailored therapies, we show results from single-cell expression quantitative trait locus (sc-eQTL) analysis on liver biopsies from 25 patients with MASLD and 23 controls. This approach identified over 3,500 sc-eQTLs across major liver cell types and cell-state-interacting eQTLs (ieQTLs) with significant enrichment for disease heritability (for MASLD trait, ieQTL enrichment odds ratio 10.27). We integrated transcription factors as upstream regulators of ieQTLs, revealing 601 functional units ('quartets') composed of transcription factors, cell states, SNP components of ieQTL (ieSNPs) and Gene component of ieQTL (ieGenes). From these results, we pinpoint the loss of an eQTL in EFHD1 during hepatocyte maladaptation associated with genotype-specific regulation by FOXO1, further contributing to the risk of MASLD. Our approach underscores the role of eQTL analysis in capturing crucial genetic variations that influence gene expression and clinical outcomes in complex diseases.

Indexed as

Fatty LiverGenetic VariationQuantitative Trait LociSingle-Cell AnalysisFemaleForkhead Box Protein O1Genetic Predisposition to DiseaseHepatocytesHumansLiverMaleNon-alcoholic Fatty Liver DiseasePolymorphism, Single NucleotideForkhead Box Protein O1FOXO1 protein, human

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.