XRCC1Arg194Trp gene polymorphism and risk of lymphoma in a Romanian population First author: Anda Ştefan Co-authors: Cristina Radu George Crauciuc Coordinators: Claudia Bănescu, MD Ioan Macarie, MD
Introduction Lymphoma is a type of cancer that begins in the immune system cells called lymphocytes; X-ray repair cross- complementing group 1 (XRCC1) is a critical enzyme in the DNA repair pathway that is principally involved in base excision repair and single strand repair.
Objective Main purpose: –to establish if the XRCC1Arg194Trp gene polymorphism is related to the high incidence of lymphomas. Specific purposes: –different correlations between gene polymorphism and malignant lymphomas; –correlations between lymphomas and some parameters; –using the results as a starting point for future studies.
Material and method Retrospective, analytical and observational study; 94 patients in the evidences of the Hematology Department of Tirgu-Mures County Hospital which were first diagnosed between ; Control group of 113 patients; Parameters analyzed and compared: type of lymphoma, age, gender, genotype, performance status and LDH; The genotypes were determined through a PCR- RFLP method, using the corresponding primers and digestive enzymes; Softwares used: Graph Pad, Microsoft Excel.
Results Gender Distribution
Results Age Distribution
Results Genotype
MLControl AA67107 AT235 p<0.0001OR= CI to MLControl AA2636 AT102 p=0.0113OR= CI to MLControl AA4153 AT132 p=0.002OR= CI to Total number of patients Males Females
Results Types of Lymphomas
B-cell T-cell
Results Performance Status (ECOG)
Results Serum Lactate Dehydrogenase (LDH)
Discussions Malignant lymphomas have a positive prognostic if they are diagnosed in early stages; From our knowledge, this is one of the few studies realized in our country about the Arg194Trp gene; Further studies are required.
Discussions Other studies revealed similar findings: XRCC1 194 Trp variants were associated with an increased risk for diffuse large B-cell lymphomas.[1] XRCC1 194Trp allele was associated with a slightly increased risk of non-Hodgkin lymphomas. [2] Variants in genes that play an important role in several DNA repair pathways were associated with altered risk of non-Hodgkin lymphomas, especially for diffuse large B-cell lymphomas. [3]
Conclusions High correlation between XRCC1Arg194Trp polymorphism and lymphomas; More common in females; Mostly in the 5 th and 7 th decade; More often B-cell lymphomas (59%), followed by lymphomas primary localized in other organs(15%).
Bibliography [1] Suk Kima, Ho-Jin Shinf: “DNA repair gene XRCC1 polymorphisms and haplotypes in diffuse large B-cell lymphoma in a Korean population” Cancer Genetics and Cytogenetics 196 (2010) 31-37; [2] Hill DA, Wang SS: “Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes ” Blood 2006;108:3161-7; [3] Min Shen, Tongzhang Zheng: “Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut ” Hum Genet (2006) 119: 659–668.