Evidence map›Paper›PMID 31340446›Full record

ArticleInternational journal of molecular sciences2019

Polymorphism in the Promoter Region of NFE2L2 Gene Is a Genetic Marker of Susceptibility to Cirrhosis Associated with Alcohol Abuse.

Kemper Nunes Dos Santos, Rodrigo M Florentino, Andressa França, Antônio Carlos Melo Lima Filho, Marcone Loiola Dos Santos, Dabny Missiaggia, Matheus de Castro Fonseca, Igor Brasil Costa, Paula Vieira Teixeira Vidigal, Michael H Nathanson and 2 more

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.0field-weighted citation impact, top 24% of its field
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

15 citing papers in PubMed, 24 citations in OpenAlex.

  1. International journal of molecular sciences · 2026
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  5. PeerJ · 2025
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  13. An update on the genetics of alcoholic liver disease.Frontiers in gastroenterology (Lausanne, Switzerland) · 2022
    Review
  14. Article
  15. 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

12 authors at 4 institutions in 2 countries.

Kemper Nunes Dos SantosUniversidade Federal de Minas Gerais, Belo Horizonte, MG 31270-901, Brazil.
Rodrigo M FlorentinoUniversidade Federal de Minas Gerais, Belo Horizonte, MG 31270-901, Brazil.
Andressa FrançaUniversidade Federal de Minas Gerais, Belo Horizonte, MG 31270-901, Brazil.
Antônio Carlos Melo Lima FilhoUniversidade Federal de Minas Gerais, Belo Horizonte, MG 31270-901, Brazil.
Marcone Loiola Dos SantosUniversidade Federal de Minas Gerais, Belo Horizonte, MG 31270-901, Brazil.
Dabny MissiaggiaUniversidade Federal de Minas Gerais, Belo Horizonte, MG 31270-901, Brazil.
Matheus de Castro FonsecaLaboratório Nacional de Biociências (LNBio), Centro de Pesquisa em Energia e Materiais (CNPEM), Campinas, SP 13083-970, Brazil.ORCID 0000-0001-9048-9775
Igor Brasil CostaInstituto de Pesquisas Evandro Chagas - IEC, Ananindeua, PA 67030-000, Brazil.
Paula Vieira Teixeira VidigalUniversidade Federal de Minas Gerais, Belo Horizonte, MG 31270-901, Brazil.
Michael H NathansonSection of Digestive Diseases, Yale University School of Medicine, New Haven, CT 06510, USA.
Fernanda de Oliveira LemosUniversidade Federal de Minas Gerais, Belo Horizonte, MG 31270-901, Brazil. folemos@hotmail.com.
M Fatima LeiteUniversidade Federal de Minas Gerais, Belo Horizonte, MG 31270-901, Brazil.
Universidade Federal de Minas Gerais · BRInstituto Evandro Chagas · BRLaboratório Nacional de Ciência e Tecnologia do Bioetanol · BRYale University · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Yale Liver CenterP30DK034989 · NIDDK · YALE UNIVERSITY · PI MICHAEL H NATHANSON · 1986 to 2026
$31.1M
Translational CoreP01DK057751 · NIDDK · YALE UNIVERSITY · PI YANG, XIAOYONG · 2001 to 2020
$25.6M
Ca2+ waves in hepatocytes: Mechanisms and effectsR01DK114041 · NIDDK · YALE UNIVERSITY · PI NATHANSON, MICHAEL H · 2018 to 2022
$2.6M
Molecular regulation of cholestasis in cholangiocytesR01DK112797 · NIDDK · YALE UNIVERSITY · PI NATHANSON, MICHAEL H · 2018 to 2021
$1.9M
Conselho Nacional de Desenvolvimento Científico e Tecnológico 159892/2018-0Coordenação de Aperfeiçoamento de Pessoal xFundação de Amparo à Pesquisa de Minas Gerais xFundação de Amparo à Pesquisa do Estado de São Paulo 2018/20014-0Liver Center at UFMG xNCATS NIH HHS UL1 TR001863NIDDK NIH HHS P01 DK057751NIDDK NIH HHS P30 DK034989NIDDK NIH HHS R01 DK112797NIDDK NIH HHS R01 DK114041
6 · The paper itself

Abstract

Alcoholic liver disease (ALD) is a highly prevalent spectrum of pathologies caused by alcohol overconsumption. Morbidity and mortality related to ALD are increasing worldwide, thereby demanding strategies for early diagnosis and detection of ALD predisposition. A potential candidate as a marker for ALD susceptibility is the transcription factor nuclear factor erythroid-related factor 2 (Nrf2), codified by the nuclear factor erythroid 2-related factor 2 gene (NFE2L2). Nrf2 regulates expression of proteins that protect against oxidative stress and inflammation caused by alcohol overconsumption. Here, we assessed genetic variants of NFE2L2 for association with ALD. Specimens from patients diagnosed with cirrhosis caused by ALD were genotyped for three NFE2L2 single nucleotide polymorphisms (SNP) (SNPs: rs35652124, rs4893819, and rs6721961). Hematoxylin & eosin and immunohistochemistry were performed to determine the inflammatory score and Nrf2 expression, respectively. SNPs rs4893819 and rs6721961 were not specifically associated with ALD, but analysis of SNP rs35652124 suggested that this polymorphism predisposes to ALD. Furthermore, SNP rs35652124 was associated with a lower level of Nrf2 expression. Moreover, liver samples from ALD patients with this polymorphism displayed more severe inflammatory activity. Together, these findings provide evidence that the SNP rs35652124 variation in the Nrf2-encoding gene NFE2L2 is a potential genetic marker for susceptibility to ALD.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotidePromoter Regions, GeneticAdultCase-Control StudiesEthanolFemaleGene ExpressionHepacivirusHepatitis CHumansLiverLiver Cirrhosis, AlcoholicLiver TransplantationMaleMiddle AgedEthanolNFE2L2 protein, humanNF-E2-Related Factor 2Alcoholic liver diseaseNFE2L2 geneNrf2Polymorphism

Identifiers

PMID31340446
PMCPMC6678089
OpenAlexW2963033063

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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 OpenQuestion graph.