title: Polymorphism of XRCC1, XRCC3, and XPD genes and risk of chronic myeloid leukemia.
abstract: 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.
authors: Department of Medical Genetics, University of Medicine and Pharmacy Tirgu Mures, 38 Gh, Marinescu Street, Romania.
authors: Claudia
authors: C
authors: Bănescu
authors: Department of Medical Genetics, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.
authors: Adrian P
authors: AP
authors: Trifa
authors: Hematology Clinic 1, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors: Smaranda
authors: S
authors: Demian
authors: Hematology Clinic 2, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors: Erzsebeth
authors: E
authors: Benedek Lazar
authors: Department of Hematology, "Ion Chiricuta" Cancer Institute, Cluj-Napoca, Romania.
authors: Delia
authors: D
authors: Dima
authors: Pediatric Clinic, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors: Carmen
authors: C
authors: Duicu
authors: Laboratory Medicine, University of Medicine and Pharmacy Tirgu Mures, Romania.
authors: Minodora
authors: M
authors: Dobreanu
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D000076105:X-ray Repair Cross Complementing Protein 1; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C110901:X-ray repair cross complementing protein 3; C000619371:XRCC1 protein, human; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human