Evidence mapPaperPMID 38997780Full record

ArticleJournal of translational medicine2024

Polygenic risk score of metabolic dysfunction-associated steatotic liver disease amplifies the health impact on severe liver disease and metabolism-related outcomes.

Lushan Xiao, Yan Li, Chang Hong, Pengcheng Ma, Hongbo Zhu, Hao Cui, Xuejing Zou, Jiaren Wang, Ruining Li, Jingzhe He and 4 more

Abstract read
In one paragraph

Article in Journal of translational medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

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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.

Lushan Xiao *Department of Health Management, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
Yan Li *Guangdong Provincial Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
Chang Hong *Guangdong Provincial Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
Pengcheng Ma *Big Data Center, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
Hongbo Zhu *Department of Medical Oncology, The First Affiliated Hospital, Hengyang Medical School, University of South China, Hengyang, 421001, Hunan, China.
Hao CuiGuangdong Provincial Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
Xuejing ZouGuangdong Provincial Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
Jiaren WangGuangdong Provincial Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
Ruining LiGuangdong Provincial Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
Jingzhe HeGuangdong Provincial Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
Shengxing LiangSchool of Public Health, Southern Medical University, Guangzhou, 510515, China.
Zeyang LiSchool of Health Management, Southern Medical University, Guangzhou, 510515, China.
Lin ZengGuangdong Provincial Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China. lin_zeng1126@163.com.
Li LiuDepartment of Health Management, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China. liuli@i.smu.edu.cn.ORCID 0000-0002-5265-4159

Funding

Guangdong Natural Science Foundation 2022A1515110656Guangzhou Science and Technology Project 202201011183National Key R&D Program of China 2020YFC2006400National Nature Science Foundation of China 81972897National Nature Science Foundation of China 82172751
6 · The paper itself

Abstract

backgroundAlthough the inherited risk factors associated with fatty liver disease are well understood, little is known about the genetic background of metabolic dysfunction-associated steatotic liver disease (MASLD) and its related health impacts. Compared to non-alcoholic fatty liver disease (NAFLD), MASLD presents significantly distinct diagnostic criteria, and epidemiological and clinical features, but the related genetic variants are yet to be investigated. Therefore, we conducted this study to assess the genetic background of MASLD and interactions between MASLD-related genetic variants and metabolism-related outcomes.

methodsParticipants from the UK Biobank were grouped into discovery and replication cohorts for an MASLD genome-wide association study (GWAS), and base and target cohorts for polygenic risk score (PRS) analysis. Autosomal genetic variants associated with NAFLD were compared with the MASLD GWAS results. Kaplan-Meier and Cox regression analyses were used to assess associations between MASLD and metabolism-related outcomes.

resultsSixteen single-nucleotide polymorphisms (SNPs) were identified at genome-wide significance levels for MASLD and duplicated in the replication cohort. Differences were found after comparing these SNPs with the results of NAFLD-related genetic variants. MASLD cases with high PRS had a multivariate-adjusted hazard ratio of 3.15 (95% confidence interval, 2.54-3.90) for severe liver disease (SLD), and 2.81 (2.60-3.03) for type 2 diabetes mellitus. The high PRS amplified the impact of MASLD on SLD and extrahepatic outcomes.

conclusionsHigh PRS of MASLD GWAS amplified the impact of MASLD on SLD and metabolism-related outcomes, thereby refining the process of identification of individuals at high risk of MASLD. Supplementation of this process with relevant genetic backgrounds may lead to more effective MASLD prevention and management.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyMultifactorial InheritancePolymorphism, Single NucleotideAgedCohort StudiesFatty LiverFemaleGenetic Risk ScoreHumansKaplan-Meier EstimateMaleMetabolic DiseasesMiddle AgedNon-alcoholic Fatty Liver DiseaseProportional Hazards ModelsBiological variationGenome-wide association studyMetabolic dysfunction-associated steatotic liver diseaseNon-alcoholic fatty liver disease

Identifiers

PMID38997780
PMCPMC11241780

What Socratic holds

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Registered trials

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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 Socratic graph.