DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia

Batar, Bahadır; Güven, Mehmet; Barış, Safa; Çelkan, Tiraje; Yıldız, İnci

doi:10.1016/j.leukres.2008.11.005

Cited by 60 publications

(47 citation statements)

References 33 publications

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“…Pooling data from all three studies (Table 2; Online Supplementary Figure S2) 74,75 and pooling data also provided no evidence of a relationship (Table 2; Online Supplementary Figure S1; Online Supplementary Table S2). Similarly no significant association between ERCC2 G23591A and A35931C genotype and risk was shown in two studies 73,75 (Table 2; Online Supplementary Figure S1; Online Supplementary Table S2).…”

Section: Meta-analysismentioning

confidence: 86%

“…Five studies included samples from remission and those collected at diagnosis. [36][37][38][39]49,69 Only six studies 45,57,61,72,73,75 clearly stated that the samples were collected when the patients were in remission. The tissue origin for these studies varied from bone marrow, buccal swabs, Guthrie cards and peripheral blood.…”

Section: Discussionmentioning

confidence: 99%

“…Three studies [73][74][75] have evaluated XRCC1 polymorphisms C26304T and G28152A (Online Supplementary Figure S1; Online Supplementary Table S2). A significant association between XRCC1 C26304T carrier status/homozygosity and elevated risk was shown in two studies.…”

Section: Meta-analysismentioning

confidence: 99%

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Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis

Vijayakrishnan¹,

Houlston²

2010

Haematologica

111

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To evaluate the contribution of candidate gene association studies to the understanding of genetic susceptibility to childhood acute lymphoblastic leukemia we conducted a systematic review and meta-analysis of published studies (January 1996-July 2009. Studies had to meet the following criteria: be case-control design, be studied by two or more studies, not be focused on HLA antigen genetic markers and be published in English. We identified 47 studies of polymorphic variation in 16 genes and acute lymphoblastic leukemia risk. To clarify the impact of individual polymorphisms on risk, pooled analyses were performed. Of the 25 polymorphic variants studied, significant associations (P<0.05) were seen in pooled analyses for eight variants: GSTM1 (OR =1.16; 95%CI: 1.04-1.30), MTRR A66G (OR=0.73, 95%CI:0.59-0.91), SHMT1 C1420T (OR=0.79, 95%CI: 0.65-0.98), RFC1 G80A (OR=1.37, 95%CI: 1.11-1.69), CYP1A1*2A (OR=1.36, 95%CI:1.11-1.66), CYP2E1*5B (OR=1.99, 95%CI:1.32-3.00) NQO1 C609T (OR=1.24, 95%CI:1.02-1.50) and XRCC1 G28152A (OR=1.78, 95%CI:1.32-2.42). These findings should, however, be interpreted with caution as the estimated false-positive report probabilities (FPRP) for each association were not noteworthy (i.e. FPRP>0.2). While candidate gene analyses are complementary to genome-wide association studies, future analyses should be based on sample sizes commensurate with the detection of small effects and attention needs to be paid to study design.Key words: polymorphisms, acute lymphoblastic leukemia, risk, meta-analysis, false positive report probabilities. -analysis. Haematologica 2010;95(8):1405-1414. doi:10.3324/haematol.2010 This is an open-access paper. Citation: Vijayakrishnan J and Houlston RS. Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta IntroductionAcute leukemia is the major pediatric cancer in developed countries, affecting between 30-45 per 1,000,000 children each year.1 Dysregulated immune response to infection may be a cause of childhood acute lymphoblastic leukemia (ALL) 2 and epidemiological data are consistent with transplacental carcinogen exposure as a basis for infant leukemia associated with MLL gene fusion, 3 but the role of environmental carcinogenesis in ALL is currently undefined. It is, however, likely that the risk of ALL from environmental exposure is influenced by co-inheritance of multiple low-risk variants.The commonest method for identifying common low-risk variants is through association studies. These are based on comparing the frequency of polymorphic genotypes in cases and controls. Alleles positively associated with the disease are analogous to risk factors in epidemiology and may be causally related to disease risk or in linkage disequilibrium with disease-causing variants. There are a number of different methods of analyzing the risk associated with a specific variant. For simple bi-allelic polymorphisms, the odds ratio of disease can be derived by comparing allele frequencies in cases and controls. This ap...

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Section: Meta-analysismentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

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Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis

Vijayakrishnan¹,

Houlston²

2010

Haematologica

111

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“…Initiation of leukemogenesis occurs during fetal life or in early infancy and is likely caused by multiple environmental and genetic factors. 3 The assertion that ALL may have a genetic basis has long been pursued through association studies based on candidate genes; genes involved in xenobiotic metabolism, 4 oxidative stress response, 5 DNA repair, 6 folate metabolism 7 and cell-cycle regulation 8 have been associated with ALL. Two recent genome-wide association studies (GWAS) have provided convincing evidence that inherited genetic variation contributes to childhood ALL predisposition.…”

Section: Introductionmentioning

confidence: 99%

Replication analysis confirms the association of ARID5B with childhood B-cell acute lymphoblastic leukemia

Healy

Richer²,

Bourgey³

et al. 2010

Haematologica

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Although childhood acute lymphoblastic leukemia is the most common pediatric cancer, its etiology remains poorly understood. In an attempt to replicate the findings of 2 recent genome-wide association studies in a French-Canadian cohort, we confirmed the association of 5 SNPs [rs7073837 (P=4.2¥10 ) and rs7089424 (P=3.6¥10 -7 )] in the ARID5B gene with childhood acute lymphoblastic leukemia. We also confirmed a selective effect for B-cell acute lymphoblastic leukemia with hyperdiploidy and report a putative gender-specific effect of ARID5B SNPs on acute lymphoblastic leukemia risk in males. This study provides a strong rationale for more detailed analysis to identify the causal variants at this locus and to better understand the overall functional contribution of ARID5B to childhood acute lymphoblastic leukemia susceptibility.

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“…Asn in exon 10 (codon 312) and a Lys ! Gln in exon 23 (codon 751) were amplified to form an undigested fragments of 751 and 436 bp, respectively, using primers described by Batar et al 33 : 5 XRCC1 codon 399 genotype was detected using a PCR-RFLP method. An Arg !…”

Section: Study Subjectsmentioning

confidence: 99%

DNA repair genes XPD and XRCC1 polymorphisms and risk of end-stage renal disease in Egyptian population

2014

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. We also found a significantly higher frequency of the XRCC1 399Gln allele in patients with ESRD than in controls (OR: 2.22; 95% CI: 1.16-4.25; p ¼ 0.02). Combination of the Arg/Gln or Gln/Gln genotypes of XRCC1 Arg399Gln polymorphism with Asp/Asn or Asn/Asn genotypes of XPDAsp312Asn or with the Lys/Gln or Gln/Gln genotypes of XPD Lys751Gln was significantly associated with the development of ESRD. Haplotypes association showed that association of Gln allele of XRCC1 Arg399Gln polymorphism with the Asn allele of XPDAsp312Asn polymorphism (p ¼ 0.004) or Gln allele of XRCC1 Arg399Gln polymorphism with the Gln allele of XPD Lys751Gln polymorphism (p ¼ 0.003) was highly significantly associated with the development of ESRD. This study revealed that XRCC1 Arg399Gln polymorphism may confer increased risk for the development of ESRD. Furthermore, larger studies should be conducted to confirm these results.

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DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia

Cited by 60 publications

References 33 publications

Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis

Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis

Replication analysis confirms the association of ARID5B with childhood B-cell acute lymphoblastic leukemia

DNA repair genes XPD and XRCC1 polymorphisms and risk of end-stage renal disease in Egyptian population

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