State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
Leuk Res. 2011 Jun;35(6):762-5. doi: 10.1016/j.leukres.2010.12.001. Epub 2010 Dec 19.
Molecular epidemiological studies have found new insights into the etiology of myelodysplastic syndromes (MDS). We analyzed the polymorphisms of 5 genes in 275 patients with primary MDS and 354 healthy controls in an attempt to identify candidate genetic risk factors for primary MDS in Chinese Han population. There was no difference in polymorphic variants of GSTM1, NQO1-C609T and XRCC3-C241T between the patients and controls. The homozygous variant C/C of RAD51-G135C was found to increase the susceptibility to MDS (OR, 4.13; p=0.001) and the risk of MDS association with structural abnormal karyotype (OR, 7.67; p=0.001). In addition, the null genotype of GSTT1 was correlated MDS patients with complex aberrant karyotype (OR, 3.25; p=0.012). These potential genetic predisposition suggested their possible involvement in the multistep pathogenesis of MDS.
分子流行病学研究为骨髓增生异常综合征（MDS）的病因提供了新的见解。我们分析了 275 例原发性 MDS 患者和 354 例健康对照者 5 个基因的多态性，试图确定中国汉族人群原发性 MDS 的候选遗传危险因素。GSTM1、NQO1-C609T 和 XRCC3-C241T 的多态性变异在患者和对照组之间没有差异。RAD51-G135C 的纯合变异 C/C 被发现增加 MDS 的易感性（OR，4.13；p=0.001）和 MDS 与结构异常核型的相关性（OR，7.67；p=0.001）。此外，GSTT1 的无效基因型与 MDS 患者的复杂异常核型相关（OR，3.25；p=0.012）。这些潜在的遗传易感性表明它们可能参与 MDS 的多步骤发病机制。
