ASSOCIATION BETWEEN GENETIC POLYMORPHISM IN DNA REPAIR GENES AND RISK OF B-CELL LYMPHOMA
ASSOCIATION BETWEEN GENETIC POLYMORPHISM IN DNA REPAIR GENES AND RISK OF B-CELL LYMPHOMA
复制标题
DOI：
10.1080/08880010903096201
复制
发表时间：
2009-01-01
影响因子：
1.7
通讯作者：
Yildiz, Inci
中科院分区：
文献类型：
--
作者：
Baris, Safa;Celkan, Tiraje;Yildiz, Inci
目的：作者评估了 DNA 修复基因、XPD（着色性干皮病 D 组）密码子（312 和 751）和 XRCC1（X 射线修复交叉互补组 1）密码子（194 和 399）SNP（单核苷酸多态性）对儿童 B 细胞淋巴瘤风险的可能影响。方法：采用PCR-RFLP方法对33例BL患者和52例年龄匹配的健康对照者进行多态性分析。结果：作者观察到 XPD 密码子 Asp312Asn、Lys751Gln 和 XRCC1 密码子 Arg399Gln 多态性的变异与 B 细胞淋巴瘤之间的任何参数均无关联。相比之下，对照组和患者组的色氨酸等位基因频率分别为 0.10 和 0.03 (p = 0.04)。 B 细胞淋巴瘤中 XRCC1 194Arg/Trp 基因型的频率显着低于对照组 (p = .005)。基因型与分期、乳酸脱氢酶或骨髓受累之间没有发现显着关系。结论：XRCC1 194Trp 等位基因可能与预防儿童 B 细胞淋巴瘤发展的保护作用相关。然而，这些结果基于少量案例，还需要进一步研究。
Objectives: The authors evaluated the possible effect of DNA repair genes, XPD (Xeroderma pigmentosum group D) codon (312 and 751) and XRCC1 (X-ray repair cross-complementing group 1) codon (194 and 399) SNPs (single-nucleotide polymorphisms) on the risk of childhood B-cell lymphoma. Methods: The polymorphisms were analyzed in 33 patients with BL cases and in 52 healthy, age-matched controls using PCR-RFLP method. Results: The authors observed no association between variation in the XPD codon Asp312Asn, Lys751Gln, and XRCC1 codon Arg399Gln polymorphisms and B-cell lymphoma for any parameter. In contrast, tryptophan allele frequency in control and patient groups was 0.10 and 0.03 respectively (p = .04). The frequency of XRCC1 194Arg/Trp genotype in B-cell lymphoma was significantly lower than that in controls (p = .005). No significant relationship was found between genotypes and stage, lactate dehydrogenase, or bone marrow involvement. Conclusions: XRCC1 194Trp allele may be associated with a protective effect against development of childhood B-cell lymphoma. However, these results were based on a small number of case and further studies should be done.