Evidence mapPaperPMID 41689074Full record

SynthesisGenome medicine2026

Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets.

Wentao Yao, Jingyi Fan, Jing Lu, Haiyan Guo, Chengxiao Yu, Xuehui Wang, Yun Wang, Yu Zhang, Qingning Duan, Lihua Cheng and 7 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Genome medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
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 synthesis or guideline pooled it.

  1. Pooled it
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

17 authors.

Wentao Yao *Department of Epidemiology, China International Cooperation Center on Environment and Human Health, Center for Global Health, School of Public Health, Nanjing Medical University, 101 Longmian Road, Jiangning District, Nanjing, Jiangsu , 211166, P.R. China.
Jingyi Fan *Health Management Center, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, China.
Jing Lu *Health Management Center, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Haiyan Guo *Department of Epidemiology, China International Cooperation Center on Environment and Human Health, Center for Global Health, School of Public Health, Nanjing Medical University, 101 Longmian Road, Jiangning District, Nanjing, Jiangsu , 211166, P.R. China.
Chengxiao YuHealth Management Center, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Xuehui WangThe Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi People's Hospital, Wuxi, China.
Yun WangHealth Management Center, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, China.
Yu ZhangThe Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi People's Hospital, Wuxi, China.
Qingning DuanThe Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou, China.
Lihua ChengChangzhou Medical Center, Nanjing Medical University, Changzhou, China.
Chen ZhouChangzhou Medical Center, Nanjing Medical University, Changzhou, China.
Zhaohui WangiKang Guobin Healthcare Group Co., Ltd, Beijing, China.
Juncheng DaiDepartment of Epidemiology, China International Cooperation Center on Environment and Human Health, Center for Global Health, School of Public Health, Nanjing Medical University, 101 Longmian Road, Jiangning District, Nanjing, Jiangsu , 211166, P.R. China.
Hongxia MaDepartment of Epidemiology, China International Cooperation Center on Environment and Human Health, Center for Global Health, School of Public Health, Nanjing Medical University, 101 Longmian Road, Jiangning District, Nanjing, Jiangsu , 211166, P.R. China.
Qun ZhangHealth Management Center, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Ci SongDepartment of Epidemiology, China International Cooperation Center on Environment and Human Health, Center for Global Health, School of Public Health, Nanjing Medical University, 101 Longmian Road, Jiangning District, Nanjing, Jiangsu , 211166, P.R. China. songci@njmu.edu.cn.
Hongbing ShenDepartment of Epidemiology, China International Cooperation Center on Environment and Human Health, Center for Global Health, School of Public Health, Nanjing Medical University, 101 Longmian Road, Jiangning District, Nanjing, Jiangsu , 211166, P.R. China. hbshen@njmu.edu.cn.

Funding

Major Project of Changzhou Medical Center, Nanjing Medical University CMCM202210Major Project of Taizhou Clinical Medical College, Nanjing Medical University TZKY20240001National Natural Science Foundation of China 82373654National Natural Science Foundation of China 82388102
6 · The paper itself

Abstract

backgroundLiver function-related quantitative biomarkers (LFQBs) are essential for assessing hepatic health, yet prior genome-wide association studies (GWAS) have largely studied them in isolation. We conducted cross-ancestry GWAS meta-analyses on seven LFQBs to further elucidate liver function’s genetic architecture, identify pleiotropic variants, and prioritize genes to pinpoint targets with therapeutic potential.

methodsWe performed GWAS meta-analyses on seven LFQBs in ~ 456,000 individuals across East Asian, European, South Asian, and African ancestries, followed by a series of downstream analyses, including fine-mapping, phenome-wide association study (PheWAS), gene-linking, and Mendelian randomization (MR).

resultsWe identified 5,507 lead signals (P < 5 × 10−9), including 210 novel ones. Fine-mapping revealed 2,012 putative causal variants, of which 38 concurrently exhibited causal signals across multiple LFQBs and showed widespread associations with liver- and metabolism-related traits in PheWAS. Additionally, polygenic risk score (PRS)-based PheWAS uncovered pan-systemic manifestations of hepatic homeostasis disruption across diverse phenotypic domains. We proposed a novel multidimensional gene-linking framework (mdS2G) to bridge the identified causal loci to 1,166 putative genes. Benchmarking analysis revealed that mdS2G exhibited superior hepatocyte enrichment compared to individual constituent strategies. Furthermore, MR analysis highlighted PEPD protein as exhibiting therapeutic potential for metabolic dysfunction-associated steatotic liver disease (MASLD) and cirrhosis (P = 2.24 × 10−5, 4.36 × 10−3, respectively).

conclusionsThis study maps the genetic landscape of liver function with expanded ancestral diversity, uncovering key variants and genes tied to hepatic homeostasis disruption and laying the groundwork for targeted liver disease therapies. Additionally, our open-access gene-linking framework provides a resource for the rapid prioritization of putative genes to guide future experimental interrogation.

Indexed as

BiomarkersGenetic PleiotropyGenome-Wide Association StudyLiverLiver DiseasesGenetic Predisposition to DiseaseGenetic Risk ScoreHumansPolymorphism, Single NucleotideBiomarkersCross-ancestryFine-mappingGene prioritizationGWASLiver functionPheWASPleiotropy

Identifiers

PMID41689074
PMCPMC13005531

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.