Evidence map›Paper›PMID 41384813›Full record

ArticleBiomolecules & biomedicine2025

Genetic risk of alcohol-related liver cirrhosis: Associations of

Branka Nesic, Marina Jelovac, Teodora Karan-Djurasevic, Dusica Vrinic Kalem, Petar Svorcan, Branka Zukic, Ivana Grubisa

Abstract read
In one paragraph

Article in Biomolecules & biomedicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Branka NesicDepartment for Human Genetics, University Hospital Medical Center "Zvezdara", Belgrade, Serbia.
Marina JelovacLaboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, Universitiy of Belgrade, Belgrade, Serbia.
Teodora Karan-DjurasevicLaboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, Universitiy of Belgrade, Belgrade, Serbia.
Dusica Vrinic KalemClinical Department for Gastroenterology and Hepatology, University Hospital Medical Center "Zvezdara", Belgrade, Serbia.
Petar SvorcanClinical Department for Gastroenterology and Hepatology, University Hospital Medical Center "Zvezdara", Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Branka ZukicLaboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, Universitiy of Belgrade, Belgrade, Serbia.
Ivana GrubisaLaboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, Universitiy of Belgrade, Belgrade, Serbia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A minority of individuals who consume excessive alcohol develop cirrhosis. Variants in the patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) and the transmembrane 6 superfamily member 2 gene (TM6SF2) have been previously identified as associated with alcohol-related cirrhosis (ALC). This study aimed to examine the variants of PNPLA3 and TM6SF2 and to develop and assess a polygenic risk score (PRS) for ALC. We enrolled 118 patients diagnosed with ALC and 131 control subjects, who were either abstainers or low-level alcohol consumers without evidence of liver disease. Genotyping of risk variants was performed using PCR-RFLP methodology. PRS, based on independent allelic effect size estimates from genotyped genetic loci, were computed and compared across groups. The development of ALC was significantly associated with CG and GG genotypes of PNPLA3 (CG: OR: 1.82; 95% CI: 1.05-3.17; p=0.033; GG: OR: 7.64; 95% CI: 3.06-19.07; p<0.001) and the CT genotype of TM6SF2 (OR: 2.43; 95% CI: 1.27-4.63; p=0.007), controlling for age and sex. Patients with cirrhosis exhibited a significantly higher mean PRS compared to controls (0.32 vs. 0.167, p = 1.8e-07). The odds ratios (ORs) and 95% confidence intervals for the group with the highest PRS score compared to the reference group were 6.707; 95% CI: 3.313-13.581, p<0.001. In our ALC patient cohort, the PNPLA3 rs738409 and TM6SF2 rs58542926 variants were associated with an increased risk of ALC development. Moreover, the PRS derived from these two variants effectively identified the genetic components linked to cirrhosis within the study population.

Indexed as

Genetic Predisposition to DiseaseLipaseLiver Cirrhosis, AlcoholicMembrane ProteinsMultifactorial InheritanceAcyltransferasesAdultAgedCase-Control StudiesFemaleGenetic Risk ScoreGenotypeHumansMaleMiddle AgedPhospholipases A2, Calcium-IndependentAcyltransferasesLipaseMembrane ProteinsPhospholipases A2, Calcium-IndependentPNPLA3 protein, humanTM6SF2 protein, human

Identifiers

PMID41384813
PMCPMC12873739

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.