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1. The G⁵¹⁶T CYP2B6 germline polymorphism affects the risk of acute myeloid leukemia and is associated with specific chromosomal abnormalities.

Author

Aggeliki Daraki, Sophia Zachaki, Theodora Koromila, Paraskevi Diamantopoulou, Gabriel E Pantelias, Constantina Sambani, Vasiliki Aleporou, Panagoula Kollia, and Kalliopi N Manola

Subjects
Medicine, Science
Abstract

The etiology of acute myeloid leukemia (AML) underlies the influence of genetic variants in candidate genes. The CYP2B6 enzyme detoxifies many genotoxic xenobiotics, protecting cells from oxidative damage. The CYP2B6 gene is subjected to a single-nucleotide polymorphism (G⁵¹⁶T) with heterozygotes (GT) and homozygotes (TT) presenting decreased enzymatic activity. This case-control study aimed to investigate the association of CYP2B6 G⁵¹⁶T polymorphism with the susceptibility of AML and its cytogenetic and clinical characteristics. Genotyping was performed on 619 AML patients and 430 healthy individuals using RCR-RFLP and a novel LightSNip assay. The major finding was a statistically higher frequency of the variant genotypes (GT and TT) in patients compared to the controls (GT:38.8% vs 29.8% and TT:9.3% vs 5.3% respectively) (p

Published
2014
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2. The G516T CYP2B6 Germline Polymorphism Affects the Risk of Acute Myeloid Leukemia and Is Associated with Specific Chromosomal Abnormalities

Author

Gabriel E. Pantelias, Theodora Koromila, Vasiliki Aleporou, Sophia Zachaki, Constantina Sambani, Aggeliki Daraki, Panagoula Kollia, Kalliopi N. Manola, and Paraskevi Diamantopoulou

Subjects
Candidate gene, Heredity, Myeloid, Chromosome Disorders, Hematologic Cancers and Related Disorders, Loss of heterozygosity, 0302 clinical medicine, Molecular Cell Biology, Genotype, 0303 health sciences, Multidisciplinary, Chromosome Biology, Myeloid leukemia, 3. Good health, Leukemia, Myeloid, Acute, Leukemia, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Cytogenetic Analysis, Medicine, Research Article, Acute Myeloid Leukemia, Risk, Chromosome Structure and Function, Clinical Research Design, Genotypes, Karyotype, Biology, Molecular Genetics, Cytogenetics, 03 medical and health sciences, Genetic Mutation, Leukemias, Genetics, Cancer Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Genotyping, Genetic Association Studies, Alleles, Germ-Line Mutation, 030304 developmental biology, Chromosome Aberrations, Polymorphism, Genetic, Mutation Types, Cancers and Neoplasms, Human Genetics, medicine.disease, Molecular biology, Cytochrome P-450 CYP2B6, Case-Control Studies, Karyotyping, Genetic Polymorphism, Population Genetics
Abstract

The etiology of acute myeloid leukemia (AML) underlies the influence of genetic variants in candidate genes. The CYP2B6 enzyme detoxifies many genotoxic xenobiotics, protecting cells from oxidative damage. The CYP2B6 gene is subjected to a single-nucleotide polymorphism (G516T) with heterozygotes (GT) and homozygotes (TT) presenting decreased enzymatic activity. This case-control study aimed to investigate the association of CYP2B6 G516T polymorphism with the susceptibility of AML and its cytogenetic and clinical characteristics. Genotyping was performed on 619 AML patients and 430 healthy individuals using RCR-RFLP and a novel LightSNip assay. The major finding was a statistically higher frequency of the variant genotypes (GT and TT) in patients compared to the controls (GT:38.8% vs 29.8% and TT:9.3% vs 5.3% respectively) (p

Published
2014

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