Association of A313G glutathione S-transferase P1 germline polymorphism with susceptibility tode novomyelodysplastic syndrome
| Autor: | Gabriel E. Pantelias, Aggeliki Daraki, Kalliopi N. Manola, Emmanuel Kanavakis, Ariadni Mavrou, Sophia Zachaki, Marina Kalomoiraki, Theodora Koromila, Chrysa Stavropoulou, Constantina Sambani |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Cancer Research Adolescent Genotype Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Young Adult GSTP1 Gene Frequency Genetic predisposition Humans Genetic Predisposition to Disease Genotyping Alleles Germ-Line Mutation Aged Aged 80 and over Chromosome Aberrations Genetics De novo Myelodysplastic Syndrome Heterozygote advantage Hematology Middle Aged Molecular biology Glutathione S-transferase Amino Acid Substitution Glutathione S-Transferase pi Oncology Case-Control Studies Myelodysplastic Syndromes biology.protein Female |
| Zdroj: | Leukemia & Lymphoma. 54:1756-1761 |
| ISSN: | 1029-2403 1042-8194 |
| DOI: | 10.3109/10428194.2012.762647 |
| Popis: | Models for the pathogenesis of myelodysplastic syndrome (MDS) imply the role of individual genetic variations in genes involved in detoxification mechanisms. GSTP1 enzyme plays a key role in the biotransformation of a variety of carcinogens. The corresponding gene is subject to a single nucleotide polymorphism (A(313)G) leading to abolished enzyme activity. In order to evaluate whether the GSTP1 polymorphism influences MDS susceptibility, we conducted a case-control study comprising 310 de novo patients and 370 healthy controls using a real-time polymerase chain reaction (PCR) genotyping method. The GSTP1 gene status was also evaluated in relation to patients' characteristics and chromosomal abnormalities. A significantly higher incidence of the GSTP1 variant genotypes was observed in patients with MDS compared to controls (p0.0001). The results revealed increased frequencies of heterozygotes in patients younger than 60 years old and of homozygotes G/G in older patients (p = 0.007). Our results provide evidence for a pathogenetic role of the GSTP1 polymorphism in MDS risk, probably in an age-dependent manner. |
| Databáze: | OpenAIRE |
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