RGD Reference Report - Polymorphism in the Promoter Region of NFE2L2 Gene Is a Genetic Marker of Susceptibility to Cirrhosis Associated with Alcohol Abuse. - Rat Genome Database

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

Authors: Nunes Dos Santos, Kemper  Florentino, Rodrigo M  França, Andressa  Lima Filho, Antônio Carlos Melo  Santos, Marcone Loiola Dos  Missiaggia, Dabny  Fonseca, Matheus de Castro  Brasil Costa, Igor  Vidigal, Paula Vieira Teixeira  Nathanson, Michael H  Lemos, Fernanda de Oliveira  Leite, M Fatima 
Citation: Nunes Dos Santos K, etal., Int J Mol Sci. 2019 Jul 23;20(14). pii: ijms20143589. doi: 10.3390/ijms20143589.
RGD ID: 21201311
Pubmed: PMID:31340446   (View Abstract at PubMed)
PMCID: PMC6678089   (View Article at PubMed Central)
DOI: DOI:10.3390/ijms20143589   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NFE2L2HumanAlcoholic Liver Diseases severityIAGP DNA:SNP:promoter:rs35652124(human)RGD 
Nfe2l2RatAlcoholic Liver Diseases severityISONFE2L2 (Homo sapiens)DNA:SNP:promoter:rs35652124(human)RGD 
Nfe2l2MouseAlcoholic Liver Diseases severityISONFE2L2 (Homo sapiens)DNA:SNP:promoter:rs35652124(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nfe2l2  (NFE2 like bZIP transcription factor 2)

Genes (Mus musculus)
Nfe2l2  (nuclear factor, erythroid derived 2, like 2)

Genes (Homo sapiens)
NFE2L2  (NFE2 like bZIP transcription factor 2)


Additional Information