title: Small MAF genes variants and chronic myeloid leukemia.
abstract: Chronic myeloid leukemia (CML) is one of the most frequent hematological neoplasia worldwide. The abnormal accumulation of reactive oxygen species may be an important factor in CML development. The transcription factor NRF2 can regulate the transcription of a battery of antioxidant and detoxificant genes after heterodimerizing with small-Maf proteins. Although the participation of NRF2 in the development of chronic degenerative diseases has been thoroughly studied, the role of small-Maf genes has not been documented. We have identified polymorphisms in the three MAF genes (F, G and K) and assessed their association with CML. Over 266 subjects with CML and 399 unrelated healthy donors have been studied. After sequencing each MAF gene by Sanger technology, we found 17 variants in MAFF gene, eight in MAFG and seven in MAFK. In the case-control study, the homozygote genotype CC for the rs9610915 SNP of MAFF was significantly associated with CML. The frequency of the ACC haplotype from MAFK was significantly lower than controls. After stratification by gender, the ACC and GTG haplotypes were associated only with males with CML. These novel data suggest an association between MAFF and MAFG and the development of CML.
authors.affiliation: Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, México City, México.
authors.forename: Angelica
authors.initials: A
authors.lastname: Martínez-Hernández
authors.forename: Humberto
authors.initials: H
authors.lastname: Gutierrez-Malacatt
authors.forename: Karol
authors.initials: K
authors.lastname: Carrillo-Sánchez
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Saldaña-Alvarez
authors.forename: Alberto
authors.initials: A
authors.lastname: Rojas-Ochoa
authors.forename: Erick
authors.initials: E
authors.lastname: Crespo-Solis
authors.forename: Alvaro
authors.initials: A
authors.lastname: Aguayo-González
authors.forename: Adriana
authors.initials: A
authors.lastname: Rosas-López
authors.forename: Jose Manuel
authors.initials: JM
authors.lastname: Ayala-Sanchez
authors.forename: Xochitl
authors.initials: X
authors.lastname: Aquino-Ortega
authors.forename: Lorena
authors.initials: L
authors.lastname: Orozco
authors.forename: Emilio J
authors.initials: EJ
authors.lastname: Cordova
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D019295:Computational Biology; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D051260:MafF Transcription Factor / Q000235:genetics; D050985:MafK Transcription Factor / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D051257:Proto-Oncogene Proteins c-maf / Q000235:genetics*; D012737:Sex Factors
chemical_list: C495607:MAF protein, human; C484147:MAFF protein, human; C494695:MAFK protein, human; D051260:MafF Transcription Factor; D050985:MafK Transcription Factor; D009687:Nuclear Proteins; D051257:Proto-Oncogene Proteins c-maf
keywords: MAFG; MAFK; oxidative stress; polymorphisms; re-sequencing