DNA repair genes polymorphisms in multiple myeloma: no association with XRCC1 (Arg399Gln) polymorphism, but the XRCC4 (VNTR in intron 3 and G-1394T) and XPD (Lys751Gln) polymorphisms is associated with the disease in Turkish patients
DNA repair genes polymorphisms in multiple myeloma: no association with XRCC1 (Arg399Gln) polymorphism, but the XRCC4 (VNTR in intron 3 and G-1394T) and XPD (Lys751Gln) polymorphisms is associated with the disease in Turkish patients
复制标题
DOI：
10.1179/102453311x13127324303399
复制
发表时间：
2011-11-01
期刊：
影响因子：
1.9
通讯作者：
Pehlivan, S.
中科院分区：
文献类型：
--
作者：
Cifci, S.;Yilmaz, M.;Pehlivan, S.
目的：本研究旨在探讨多发性骨髓瘤（MM）患者DNA修复基因（XPD，XRCC 1和XRCC 4）多态性与临床参数之间的关系，其对预后的影响及其在MM易感性中的作用。患者和方法：60例MM患者和70例健康对照组被纳入本研究。采用聚合酶链反应和/或聚合酶链反应-限制性片段长度多态性方法检测基因多态性。XPD（Llys 751 Gln）和XRCC 1（Arg 399 Gln）基因型频率在患者组和对照组中无显著性差异，而XRCC 4（内含子3的VNTR和G-1394 T）多态性与患者有显著性关联。MM患者组中AA基因型与XPD（751）基因多态性的无事件生存期（EFS）显著相关（P=0.047）。当VNTR内含子3多态性比较基因型频率时，发现DD基因型显著较低XRCC 4（G-1394 T）多态性基因型频率在患者组中显著低于对照组（P=0.012），而GG和TT基因型在患者组中显著低于对照组结果：XRCC 4 DNA修复蛋白基因的共同变异可能与骨髓瘤易感性有关。这些发现需要在独立人群中进一步验证。
Objective: This study aims to investigate the association between the polymorphisms in DNA repair genes (XPD, XRCC1, and XRCC4) and clinical parameters in patients with multiple myeloma (MM), their effects on prognosis and their roles in susceptibility to MM.Patients and methods: Sixty patients, diagnosed with MM and 70 individuals as the healthy control group were included in the study. Gene polymorphisms were detected with the polymerase chain reaction and/or polymerase chain reaction-restriction fragment length polymorphism method. When the genotype frequencies of XPD (Llys751Gln) and XRCC1 (Arg399Gln) genes were examined in the patient and control groups, no significant difference was detected, while a significant association was found in XRCC4 (VNTR in intron 3 and G-1394T) polymorphisms. A significant association was found in the MM patients group for AA genotype and event-free survival (EFS) in terms of XPD (751) gene polymorphism (P=0.047). When VNTR intron 3 polymorphism was compared for genotype frequency, DD genotype was found to be significantly low (P=0.012) in the patient group, whereas GG and TT genotypes were found to be significantly lower in the patient group for the genotype frequency XRCC4 (G-1394T) polymorphism when compared to the control group (P=0.015, P=0.010, respectively).Results: These data provide support for the hypothesis that a common variation in the genes encoding XRCC4 DNA repair proteins may contribute to susceptibility to myeloma. These findings require further validation in independent populations.