NFE2L2, nuclear factor, erythroid 2 like 2, 4780

N. diseases: 823; N. variants: 34
Disease: Primary malignant neoplasm of lung ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6721961
rs6721961
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.020 GeneticVariation BEFREE We prepared genomic DNA samples from 387 Japanese patients with primary lung cancer and detected SNP (c.-617C>A; rs6721961) in the ARE-like loci of the human NRF2 gene by the rapid genetic testing method we developed in this study. 24040073 2013
dbSNP: rs6721961
rs6721961
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.020 GeneticVariation BEFREE In excellent agreement with this finding, we found that minor A/A homozygotes of a single nucleotide polymorphism (SNP) in the human NRF2 upstream promoter region (rs6721961) exhibited significantly diminished NRF2 gene expression and, consequently, an increased risk of lung cancer, especially those who had ever smoked. 23572560 2013