1. Paraoxonase 1 (PON1) Q192R and L55M Polymorphisms as Potential Predisposition Factors for Chronic Lymphocytic Leukemia
- Author
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Paraskevi Diamantopoulou, Domna Pantelia, Aggeliki Daraki, Kalliopi N. Manola, Sophia Zachaki, Ioanna Maria Margariti, Paraskevi Roussou, Constantina Sambani, and Agapi Ioannidou
- Subjects
Adult ,Male ,Cancer Research ,Genotyping Techniques ,Chronic lymphocytic leukemia ,Biology ,Polymorphism, Single Nucleotide ,Pathogenesis ,03 medical and health sciences ,0302 clinical medicine ,Genotype ,medicine ,Humans ,Genetic Predisposition to Disease ,Allele ,In Situ Hybridization, Fluorescence ,Aged ,Aged, 80 and over ,Chromosome Aberrations ,Chromosomes, Human, Pair 14 ,medicine.diagnostic_test ,Aryldialkylphosphatase ,Paraoxonase ,General Medicine ,Middle Aged ,medicine.disease ,Leukemia, Lymphocytic, Chronic, B-Cell ,PON1 ,SNP genotyping ,Oncology ,Case-Control Studies ,Karyotyping ,030220 oncology & carcinogenesis ,Immunology ,biology.protein ,Chromosomes, Human, Pair 6 ,Female ,Fluorescence in situ hybridization - Abstract
Background/aim PON1 gene has an executive role in antioxidant defense, protecting cells from genotoxic factors. Q192R and L55M PON1 polymorphisms reduce catalytic activity of the encoded protein. These polymorphisms were studied in 300 chronic lymphocytic leukemia (CLL) patients and 106 healthy donors. They were also associated with patients' cytogenetic findings, to investigate their possible implication in CLL pathogenesis. Materials and methods SNP genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Karyotypic analysis was also performed by chromosome G-banding analysis and fluorescence in situ hybridization. Results Genotypic and allelic distribution of Q192R polymorphism showed a statistically significant higher frequency of mutant genotypes and mutant alleles in patients compared to controls. The same observation was noted in patients with abnormal karyotypes and those carrying abn14q32 and del(6q). A statistically increased frequency for the mutant allele was also revealed in patients with del(11q). On the contrary, L55M polymorphism showed a similar distribution between patients and controls. Conclusion Q192R polymorphism plays a role in CLL predisposition and the formation of specific chromosomal aberrations.
- Published
- 2019