Investigation of Arg399Gln and Arg194Trp Polymorphisms of the <i>XRCC1</i> (X-Ray Cross-Complementing Group 1) Gene and Its Correlation to Sister Chromatid Exchange Frequency in Patients with Chronic Lymphocytic Leukemia

Duman, Nilgun; Aktan, Melih; Öztürk, Şükrü; Palandüz, Şükrü; Çakıris, Aris; Ustek, Duran; Özbek, Uğur; Nalçacı, Meliha; Çefle, Kıvanç

doi:10.1089/gtmb.2011.0152

Cited by 15 publications

(10 citation statements)

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“…We therefore excluded this study from Arg194Trp analysis. After removing these ineligible studies, a total 19 studies with 3387 cases and 6168 controls for Arg399Gln (G>A) polymorphism [15], [16], [17], [18], [19], [20], [21], [22], [23], [24], [25], [26], [27], [28], [29], [30], [31], [32], [33], 12 studies with 2043 cases and 4550 controls for Arg194Trp (C>T) [17], [18], [20], [21], [22], [23], [24], [25], [26], [28], [29], [32], and 6 studies with 1445 cases and 1905 controls for Arg280His (G>A) [15], [22], [23], [26], [28], [30] were included for further analysis (Figure 1). A database was established to display the study characteristics of each eligible study (Table 1).…”

Section: Resultsmentioning

confidence: 99%

“…The relationship between these XRCC1 polymorphisms and leukemia risk has been examined in some case-control studies, but the results of these studies were contradictory and inconclusive. Although the association between XRCC1 polymorphisms and risk of some types of leukemia was recognized by a number of studies [15], [17], [20], [21], [22], [23], [24], [25], [27], [28], [29], [32], [33], other reports did not take the XRCC1 genetic variants as risk or protective factors for leukemia [16], [18], [19], [26], [30], [31]. We conducted a meta-analysis that includes 19 studies for Arg399Gln (G>A) polymorphism, 12 studies for Arg194Trp (C>T), and 6 studies for Arg280His (G>A) to evaluate XRCC1 genotype-leukemia association (Figure 1).…”

Section: Discussionmentioning

confidence: 99%

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Genetic Polymorphisms of XRCC1 and Leukemia Risk: A Meta-Analysis of 19 Case-Control Studies

2013

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ObjectiveThree common X-ray repair cross-complementing groups 1 (XRCC1) polymorphisms, Arg399Gln, Arg194Trp, and Arg280His, have been reported to be implicated in the development of leukemia. However, previous results from different studies were inconsistent. Consequently, we performed a meta-analysis in order to accurately evaluate the association between XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms and leukemia risk.MethodsThrough computerized searching of PubMed, ISI Web of Knowledge, Cochrane, EBSCO, and OpenGrey databases, and manually searching relevant references, a total of 19 studies with 3387 cases and 6168 controls for Arg399Gln (G>A) polymorphism, 12 studies with 2043 cases and 4550 controls for Arg194Trp (C>T), and 6 studies with 1445 cases and 1905 controls for Arg280His (G>A) were collected to perform meta-analysis and stratified analysis to explore the associations between these variants and leukemia susceptibility. Based on three genetic models, the codominant model, dominant model and recessive model, odds ratios (ORs) as well as their 95% confidence intervals (CIs) were used to evaluate the association strength between XRCC1 genotypes and leukemia risk.ResultsWith respect to overall leukemia susceptibility, no association was detected. In stratified analyses by tumor type, Arg399Gln was associated with higher acute lymphoblastic leukemia (ALL) risk (AA vs. GG, OR = 1.50, 95% CI: 1.11-2.02; AA+GA vs. GG, OR = 1.35, 95% CI: 1.02-1.78). Additionally, Arg399Gln, Arg194Trp, and Arg280His may influence the susceptibilities of some leukemia type and race populations.ConclusionThis meta-analysis indicates these three polymorphisms of XRCC1 do not associate with overall leukemia risks but could be associated with the risks for some specific subgroups.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Genetic Polymorphisms of XRCC1 and Leukemia Risk: A Meta-Analysis of 19 Case-Control Studies

2013

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“…Finally, it has been revealed that XRCC1 Arg194Trp SNP (rs1799782) is a functional polymorphism and could affect the XRCC1 role, decrease the kinetics of repair mechanism, and influence susceptibility to cancer [25,26]. The role of XRCC1 polymorphisms in susceptibility to acute myeloid leukemia (AML) [27][28][29], acute lymphoblastic leukemia [30], chronic lymphocytic leukemia [31], and lymphoma [32] have been widely studied.…”

Section: Introductionmentioning

confidence: 99%

Concurrent effects of ABCB1 C3435T, ABCG2 C421A, and XRCC1 Arg194Trp genetic polymorphisms with risk of cancer, clinical output, and response to treatment with imatinib mesylate in patients with chronic myeloid leukemia

et al. 2015

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There are a paucity and contradicted data about the impact of concurrent heredity of polymorphic genes and risk of chronic myeloid leukemia (CML). In the present study, the concurrent effects of three polymorphisms affecting the integrity of DNA consist of ABCB1 C3435T, ABCG2 C421A, and XRCC1 Arg194Trp on development of chronic myeloid leukemia were studied. Furthermore, the role of these polymorphisms in clinical and laboratory outcomes of patients was evaluated. In this case-control study, 70 CML patients and 140 healthy individuals were enrolled in the study. The clinical features of patients such as phase of disease and response to treatment and laboratory data before and after treatment with imatinib mesylate were collected. ABCB1 C3435T, ABCG2 C421A, and XRCC1 Arg194Trp single nucleotide polymorphisms were evaluated by restriction fragment length polymorphism-polymerase chain reaction. The T allele of ABCB1 C3435T, T allele of XRCC1 Arg194Trp, and C allele of ABCG2 C421A polymorphisms were significantly higher in patients than controls. TT genotype of ABCB1 and TT genotype of XRCC1 were associated with higher risk of chronic myeloid leukemia development. CC421 ABCG2/TT3435 ABCB1 and CC421 ABCG2/TT27157 XRCC1 were also correlated with a higher risk of CML. Patients with C allele of ABCB1 had poor cytogenetic response, and correlation of CC421 ABCG2/TT3435 ABCB1 diplotype with accelerated phase of CML was significant. Patients with CC421 ABCG2/TT3435 ABCB1 and CC421 ABCG2/TT27157 XRCC1 diplotypes might be at higher risk to rapid and severe development of CML and have weaker response to treatments with imatinib.

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“…Also, the XRCC1 polymorphisms have been extensively studied in relation to acute myeloid leukemia (AML) [3, 13, 15, 16], acute lymphoblastic leukemia [17–19], chronic lymphocytic leukemia [20, 21], and lymphoma [22–26]. …”

Section: Introductionmentioning

confidence: 99%

Polymorphism ofXRCC1,XRCC3, andXPDGenes and Risk of Chronic Myeloid Leukemia

Bănescu

Demian

Lazar

et al. 2014

BioMed Research International

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The genetic polymorphisms of X-ray repair cross complementing group 1 (XRCC1), X-ray repair cross complementing group 3 (XRCC3), and xeroderma pigmentosum complementation group D (XPD) repair genes may lead to genetic instability and leukemogenesis. The purpose of the study was to evaluate the association between XRCC1 Arg399Gln, Arg280His and Arg194Trp, XRCC3 Thr241Met, and XPD Lys751Gln polymorphisms and the risk of developing CML in Romanian patients. A total of 156 patients diagnosed with CML and 180 healthy controls were included in this study. We found no association between CML and XRCC1 or XRCC3 variant genotypes in any of the investigated cases. A significant difference was observed in the variant genotype frequencies of the XPD Lys751Gln polymorphism between the patients with CML and control group (for variant homozygous genotypes, OR = 2.37; 95% CI = 1.20–4.67; P value = 0.016 and for combined heterozygous and variant homozygous genotypes, OR = 1.72; 95% CI = 1.10–2.69; P value = 0.019). This was also observed when analyzing the variant 751Gln allele (OR = 1.54; 95% CI = 1.13–2.11; P value = 0.008). Our results suggest that the XPD Lys751Gln variant genotype increases the risk of CML.

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Investigation of Arg399Gln and Arg194Trp Polymorphisms of the XRCC1 (X-Ray Cross-Complementing Group 1) Gene and Its Correlation to Sister Chromatid Exchange Frequency in Patients with Chronic Lymphocytic Leukemia

Cited by 15 publications

References 32 publications

Genetic Polymorphisms of XRCC1 and Leukemia Risk: A Meta-Analysis of 19 Case-Control Studies

Genetic Polymorphisms of XRCC1 and Leukemia Risk: A Meta-Analysis of 19 Case-Control Studies

Concurrent effects of ABCB1 C3435T, ABCG2 C421A, and XRCC1 Arg194Trp genetic polymorphisms with risk of cancer, clinical output, and response to treatment with imatinib mesylate in patients with chronic myeloid leukemia

Polymorphism ofXRCC1,XRCC3, andXPDGenes and Risk of Chronic Myeloid Leukemia

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