Evidence map›Paper›PMID 42823416›Full record

ArticleNature communications2026

Subtyping metabolic dysfunction-associated steatotic liver disease using electronic health record-linked genomic cohorts reveals diverse etiologies and progression.

Tahmina Sultana Priya, Huihuang Yan, Kirk J Wangensteen, Stephen Wu, Anthony C Luehrs, Filippo Pinto E Vairo, Fan Leng, Andres J Acosta, Robert A Vierkant, Alina M Allen and 4 more

Abstract read
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

14 authors.

Tahmina Sultana PriyaDepartment of Computer Science, Virginia Tech, Blacksburg, VA, USA.ORCID 0009-0004-5105-7370
Huihuang YanDivision of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0003-0756-2922
Kirk J WangensteenDivision of Gastroenterology and Hepatology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0001-6042-6490
Stephen WuDivision of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Anthony C LuehrsDivision of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.ORCID 0009-0009-8446-5553
Filippo Pinto E VairoCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0001-6030-1903
Fan LengData Analytics and Integration, Mayo Clinic, Rochester, MN, USA.
Andres J AcostaDivision of Gastroenterology and Hepatology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0003-2286-489X
Robert A VierkantDivision of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0001-6242-5221
Alina M AllenDivision of Gastroenterology and Hepatology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.
Konstantinos N LazaridisCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-0437-681X
Eric W KleeDivision of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. Klee.Eric@mayo.edu.ORCID 0000-0003-2946-5795
Danfeng Daphne YaoDepartment of Computer Science, Virginia Tech, Blacksburg, VA, USA. danfeng@vt.edu.ORCID 0000-0001-8969-2792
Shulan TianDivision of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. Tian.Shulan@mayo.edu.ORCID 0000-0002-3348-7439

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a heterogeneous condition with diverse etiologies and clinical presentations. Yet, a consensus of subtypes is lacking in MASLD. Based on latent class analysis of significant MASLD-related clinical variables, we identify five subgroups with distinct genetic, clinical, and risk profiles, which are well recapitulated in an independent cohort. Polygenic risk score and genetic variant analysis reveal genetic contributions across all subgroups. In particular, two subgroups, male-predominant cardiorenal (C2) and female-predominant with obesity and mood disorders (C3), are associated with high prevalence of type 2 diabetes, obesity, and sleep apnea. The latter also has relatively high usage of antidepressant medicine. On the other hand, the polygenic MASLD (C4) is characterized by the lowest incidence of metabolic comorbidities and ischemic heart disease. Nevertheless, this subgroup overall has the highest rate of liver transplant, which is likely driven, in part, by the combinatorial genetic effects of high-prevalent risk alleles in TM6SF2 and MBOAT7 together with low-prevalent protective allele in HSD17B13. Finally, the polygenic MASH subtype C5 shows increased risk of developing advanced fibrosis and acute renal failure. Together, our study provides key insights into MASLD heterogeneity, highlighting the opportunity for personalized therapies.

Indexed as

Electronic Health RecordsFatty Liver17-Hydroxysteroid DehydrogenasesCohort StudiesDiabetes Mellitus, Type 2Disease ProgressionFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreGenomicsHumansMaleMiddle AgedNon-alcoholic Fatty Liver DiseaseObesityRisk Factors17-Hydroxysteroid DehydrogenasesHSD17B13 protein, human

Identifiers

PMID42823416
PMCPMC13631271

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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.