title: Single nucleotide polymorphisms in DNA glycosylases: From function to disease.
abstract: Oxidative stress is associated with a growing number of diseases that span from cancer to neurodegeneration. Most oxidatively induced DNA base lesions are repaired by the base excision repair (BER) pathway which involves the action of various DNA glycosylases. There are numerous genome wide studies attempting to associate single-nucleotide polymorphisms (SNPs) with predispositions to various types of disease; often, these common variants do not have significant alterations in their biochemical function and do not exhibit a convincing phenotype. Nevertheless several lines of evidence indicate that SNPs in DNA repair genes may modulate DNA repair capacity and contribute to risk of disease. This overview provides a convincing picture that SNPs of DNA glycosylases that remove oxidatively generated DNA lesions are susceptibility factors for a wide disease spectrum that includes besides cancer (particularly lung, breast and gastrointestinal tract), cochlear/ocular disorders, myocardial infarction and neurodegenerative disorders which can be all grouped under the umbrella of oxidative stress-related pathologies.
authors.affiliation: Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy. Electronic address: Mariarosaria.derrico@iss.it.
authors.forename: Mariarosaria
authors.initials: M
authors.lastname: D'Errico
authors.affiliation: Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Parlanti
authors.affiliation: Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy; Istituto di Cristallografia, Consiglio Nazionale delle Ricerche, Via Salaria, Km 29,300, 00016 Monterotondo Stazione, Rome, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Pascucci
authors.affiliation: Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Fortini
authors.affiliation: Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Baccarini
authors.affiliation: Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Simonelli
authors.affiliation: Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy. Electronic address: Eugenia.dogliotti@iss.it.
authors.forename: Eugenia
authors.initials: E
authors.lastname: Dogliotti
mesh_terms: D015834:Cochlear Diseases / Q000235:genetics*; D004249:DNA Damage; D045647:DNA Glycosylases / Q000235:genetics*; D004260:DNA Repair; D005128:Eye Diseases / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D009203:Myocardial Infarction / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000235:genetics*; D018384:Oxidative Stress; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D045647:DNA Glycosylases
keywords: DNA glycosylases; DNA repair; Oxidative stress related pathologies; Single nucleotide polymorphisms