Wang Si Li, Zhao Hui, Zhou Bin, Chen Yong Li, Zou Yao, Zhu Xiao Fan, Li Qing Shan, Han Ming Zhe, Yang Ren Chi, Han Zhong Chao
State Key Laboratory of Experimental Hematology, Institute of Hematology and Hospital of Blood Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, PR China.
Leuk Res. 2006 Nov;30(11):1341-5. doi: 10.1016/j.leukres.2006.03.027. Epub 2006 May 24.
Excision repair cross-complementation group 1 (ERCC1) is important in repairing DNA damage and genomic instability, and polymorphisms in ERCC1 may play a role in human tumors. In this study, the relationship of two ERCC1 polymorphisms, 8092C>A and 19007G>A, with susceptibility to acute lymphoblastic leukemia (ALL) was investigated in 183 childhood patients. For the ERCC1 8092C>A polymorphism, individuals carrying the ERCC1 8092CC genotype had a significantly higher risk when compared with those carrying at least one A allele gene (AA/AC). Analysis after stratification for sex showed that the males carrying ERCC1 8092CC genotype were associated with highly significant increased risk of ALL (1.94-fold) but not females. There was no association between ERCC1 19007G>A polymorphism and ALL risk when all patients as a group were analyzed. However, the males carrying ERCC119007A allele were associated with highly significant increased risk of ALL (2.36-fold). For the ERCC1 8092C>A polymorphism, individuals under 8 years old (median age) carrying CC genotype had significantly higher risk. However, the 19007G>A polymorphism was not associated with such age-related ALL risk. These results suggest that the ERCC1 8092C>A polymorphism may be related to the occurrence of childhood ALL in a Chinese population.
切除修复交叉互补基因1(ERCC1)在修复DNA损伤和基因组不稳定方面具有重要作用,ERCC1基因多态性可能在人类肿瘤中发挥作用。本研究在183例儿童急性淋巴细胞白血病(ALL)患者中,探讨了ERCC1基因的两个多态性位点8092C>A和19007G>A与ALL易感性的关系。对于ERCC1 8092C>A多态性,携带ERCC1 8092CC基因型的个体与携带至少一个A等位基因(AA/AC)的个体相比,风险显著更高。按性别分层分析显示,携带ERCC1 8092CC基因型的男性ALL风险显著增加(1.94倍),而女性则无此关联。对所有患者作为一个整体进行分析时,ERCC1 19007G>A多态性与ALL风险之间无关联。然而,携带ERCC1 19007A等位基因的男性ALL风险显著增加(2.36倍)。对于ERCC1 8092C>A多态性,年龄中位数在8岁以下且携带CC基因型的个体风险显著更高。然而,19007G>A多态性与这种与年龄相关的ALL风险无关。这些结果表明,ERCC1 8092C>A多态性可能与中国人群儿童ALL的发生有关。