Association of polymorphisms in NFE2L2 gene encoding transcription factor Nrf2 with multifactorial diseases

Abstract

Protein transcription factor Nrf2 is a master regulator of cytoprotection. Nrf2 launches the expression of more than 100 genes of antioxidant protection and xenobiotic detoxification under oxidative stress conditions. The effect of Nrf2 induction is being intensively investigated in various multifactorial diseases that are accompanied by oxidative stress and cell death. In order to properly find a disease, which can be managed using the Nrf2-targeting therapy, it is essential to demonstrate a link between allele polymorphisms of the NFE2L2 gene, which encodes the Nrf2 protein, and the changed risk for the development of a disease. Here we review the studies of Nrf2 polymorphism in respiratory diseases (asthma, pneumonia) and associated critical illnesses, cardiovascular diseases, sex-specific reproductive disorders, gastrointestinal diseases, diabetes, obesity, neurodegenerative diseases such as Parkinson’s and Alzheimer’s diseases, epilepsy, and retinopathy. The results of the studies strongly indicate that transcription factor Nrf2 is responsible for the pathogenesis of various multifactorial diseases.