XRCC3 Thr241Met polymorphism and risk of acute myeloid leukemia in a Romanian population

Bănescu, Claudia; Tilincă, Mariana; Benedek, Erzsebeth Lazar; Demian, Smaranda; Macarie, Ioan; Duicu, Carmen; Dobreanu, Minodora

doi:10.1016/j.gene.2013.05.054

Cited by 15 publications

(11 citation statements)

References 17 publications

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“…Similarly, MTRR AA genotype had lower DNA methylation and AML transformation rate. In addition, DNA repair systems have a critical role in maintaining genome integrity and also had an impact on the risk of developing different types of cancer, as well as in their prognosis . Here, we found that OGG1 GG genotype influenced the AML transformation rate and survival of MDS patients.…”

Section: Discussionmentioning

confidence: 64%

Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis

et al. 2016

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Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) share common features: elevated oxidative stress, DNA repair deficiency, and aberrant DNA methylation. We performed a hospital-based case-control study to evaluate the association in variants of genes involved in oxidative stress, folate metabolism, DNA repair, and DNA methylation with susceptibility and prognosis of these malignancies. To that end, 16 SNPs (one per gene: CAT, CYBA, DNMT1, DNMT3A, DNMT3B, GPX1, KEAP1, MPO, MTRR, NEIL1, NFE2F2, OGG1, SLC19A1, SOD1, SOD2, and XRCC1) were genotyped in 191 patients (101 MDS and 90 AML) and 261 controls. We also measured oxidative stress (reactive oxygen species/total antioxidant status ratio), DNA damage (8-hydroxy-2'-deoxyguanosine), and DNA methylation (5-methylcytosine) in 50 subjects (40 MDS and 10 controls). Results showed that five genes (GPX1, NEIL1, NFE2L2, OGG1, and SOD2) were associated with MDS, two (DNMT3B and SLC19A1) with AML, and two (CYBA and DNMT1) with both diseases. We observed a correlation of CYBA TT, GPX1 TT, and SOD2 CC genotypes with increased oxidative stress levels, as well as NEIL1 TT and OGG1 GG genotypes with higher DNA damage. The 5-methylcytosine levels were negatively associated with DNMT1 CC, DNMT3A CC, and MTRR AA genotypes, and positively with DNMT3B CC genotype. Furthermore, DNMT3A, MTRR, NEIL1, and OGG1 variants modulated AML transformation in MDS patients. Additionally, DNMT3A, OGG1, GPX1, and KEAP1 variants influenced survival of MDS and AML patients. Altogether, data suggest that genetic variability influence predisposition and prognosis of MDS and AML patients, as well AML transformation rate in MDS patients. © 2016 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 64%

Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis

et al. 2016

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“…On the other hand, there are also same reports in which no association was found between Arg399Gln polymorphism and multiple myeloma [25], B cell lymphoma [24], lung cancer [11], colorectal cancer in Turkish patients [9] and renal cell carcinoma in Caucasian patients [23]. In addition, there are studies indicating that the presence of Met/Met genotype for Thr241Met polymorphism is a risk factor for AML in Romanian population [26] and glioma in Chinese population [31] with contraversial reports for AML in Egyptian population [29]. However, some of the studies failed to find a significant Thr241Met polymorphism association with lung cancer in Caucasians and African-Americans [20], colorectal cancer in Polish population [28] and oral cavity cancers in Brazilian patients [27].…”

Section: Discussionmentioning

confidence: 94%

“…There are a lot of studies in the literature about DNA repair gene polymorphisms and their association with different types of cancers. However, the results are contradictory [2,7,[9][10][11][12][20][21][22][23][24][25][26][27][28][29][30][31]. Moreover, the effect of genetic polymorphisms on the risk of cancer development may vary from one population to the other due to exposed carcinogenes, and differences in genotype and allele frequencies [14].…”

Section: Discussionmentioning

confidence: 99%

Identification of XRCC1 Arg399Gln and XRCC3 Thr241Met Polymorphisms in a Turkish Population and Their Association with the Risk of Chronic Lymphocytic Leukemia

Mutlu

Elçi

Yıldırım

et al. 2014

Indian J Hematol Blood Transfus

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DNA repair systems are essential for cellular functions. Defects due to sequence variations in DNA repair genes can lead severe failure of cell functions and causing many cancer types including leukemia. The aim of this study was to investigate the relationship between XRCC1 Arg399Gln and XRCC3 Thr241Met polymorphisms and susceptibility to chronic lymphocytic leukemia (CLL) in Turkish patients. In addition, genotype distribution of these polymorphisms was compared with other populations. The frequencies of Arg399Gln and Thr241Met single nucleotide polymorphisms were studied in 25 CLL patients and 30 healthy individuals. Single nucleotide polymorphisms were genotyped by PCR-RFLP method. The genotype and allele frequencies of Arg399Gln and Thr241Met polymorphisms were not statistically different between the CLL patients and control group. The allelic frequency similarities were found between Turkish and Brazilian populations for Arg399Gln polymorphism. On the other hand, similarities were found between Turkish and other Caucasian populations for Thr241Met polymorphism. Marked differences were observed between American African versus Turkish and Chinese versus Turkish populations for Arg399Gln and Thr241Met polymorphisms respectively. These results indicate that Arg399Gln and Thr241Met polymorphisms were not associated with the development of CLL in Turkish population and ethnic differences is one of the most important factor for allele frequency differences.

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“…A few environmental risk factors have been described, such as ionizing radiation, benzene, pesticides, and illicit drug use (Belson et al 2007;Eden 2010;Schnatter et al 1996); however, they can only account for a minor proportion of incident cases. The opinion that acute leukemia may have a genetic basis has long been pursued through candidate gene-based association studies, identifying genes involved in xenobiotic metabolism (Krajinovic et al 1999), DNA repair (Bȃnescu et al 2013), cell-cycle regulation , and oxidative stress response (Krajinovic et al 2002). Despite differences in the pathogenesis, AML and ALL sometimes share some genetic factors.…”

Section: Introductionmentioning

confidence: 99%

Replication analysis confirms the association of several variants with acute myeloid leukemia in Chinese population

Cao

Yang

Zhang

et al. 2015

J Cancer Res Clin Oncol

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XRCC3 Thr241Met polymorphism and risk of acute myeloid leukemia in a Romanian population

Cited by 15 publications

References 17 publications

Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis

Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis

Identification of XRCC1 Arg399Gln and XRCC3 Thr241Met Polymorphisms in a Turkish Population and Their Association with the Risk of Chronic Lymphocytic Leukemia

Replication analysis confirms the association of several variants with acute myeloid leukemia in Chinese population

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