DNA repair XRCC1 Arg399Gln polymorphism alone, and in combination with CYP2E1 polymorphisms significantly contribute to the risk of development of childhood acute lymphoblastic leukemia

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dc.authoridtanrikut, cihan/0000-0002-5692-1533
dc.contributor.authorTumer, Tugba Boyunegmez
dc.contributor.authorYilmaz, Duygu
dc.contributor.authorTanrikut, Cihan
dc.contributor.authorSahin, Gurses
dc.contributor.authorUlusoy, Gulen
dc.contributor.authorArinc, Emel
dc.date.accessioned2025-01-27T20:59:56Z
dc.date.available2025-01-27T20:59:56Z
dc.date.issued2010
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractIt is now well established that genetic polymorphisms impairing the DNA repair capacity can disrupt the genomic integrity and potentially modulate individual's susceptibility to various cancers. In this study, we investigated the possible association of X-ray repair cross-complimenting group 1 (XRCC1) Arg399Gln and Arg194Trp variants with the risk of incidence of childhood acute lymphoblastic leukemia (ALL) in Turkish population comprised of 190 healthy controls and 167 ALL patients. For Arg399Gln polymorphism, the heterozygous (Arg/Gln) and homozygous mutant (Gln/Gln) genotypes were significantly more common in the ALL patients than the controls (OR: 1.6, p = 0.04). Particularly, the Gln399Gln genotype significantly increased the risk of disease up to 2.0-fold (OR: 2.0, p = 0.04). Besides, Gln399Gln genotype has been found to be associated with considerably increased risk of ALL among females (OR = 2.9, p = 0.03). In case of codon 194 polymorphism, no significant associations have been found with risk of childhood ALL. In addition, none of the combinations of XRCC1 codon 194 and 399 polymorphisms have been found to be significantly associated with childhood ALL risk. In the scope of this study, we have also showed that the co-presence of XRCC1 codon 399 and CYP2E1*5B and *6 polymorphisms (data for CYP2E1 polymorphisms drawn from previously published study conducted in our lab) in the same individuals considerably increased the risk for childhood ALL to 3.7-fold with borderline significance (p = 0.049). The observed combined effect was considerably more prominent among females (OR = 17.4, p = 0.001) and need to further investigation. This is the first study showing combined associations of XRCC1 399Gln, CYP2E1*5B and *6 alleles with the risk of development of childhood ALL. (C) 2010 Elsevier Ltd. All rights reserved.
dc.description.sponsorshipTurkish Academy of Sciences
dc.description.sponsorshipThe authors thank to the healthy volunteers and patients for participating to the study. This study was supported in part by Turkish Academy of Sciences.
dc.identifier.doi10.1016/j.leukres.2010.02.035
dc.identifier.endpage1281
dc.identifier.issn0145-2126
dc.identifier.issue10
dc.identifier.pmid20394984
dc.identifier.scopus2-s2.0-77955984748
dc.identifier.scopusqualityQ3
dc.identifier.startpage1275
dc.identifier.urihttps://doi.org/10.1016/j.leukres.2010.02.035
dc.identifier.urihttps://hdl.handle.net/20.500.12428/26884
dc.identifier.volume34
dc.identifier.wosWOS:000281214700004
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherPergamon-Elsevier Science Ltd
dc.relation.ispartofLeukemia Research
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectChildhood ALL
dc.subjectXRCC1
dc.subjectCYP2E1
dc.subjectGenetic polymorphism
dc.subjectRisk assessment
dc.titleDNA repair XRCC1 Arg399Gln polymorphism alone, and in combination with CYP2E1 polymorphisms significantly contribute to the risk of development of childhood acute lymphoblastic leukemia
dc.typeArticle

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