儿童急性淋巴细胞白血病ERCC1基因多态性分析

Association between ERCC1 gene polymorphisms and acute lymphoblastic leukemia in children

目的：探讨剪切修复基因ERCC 18092C〉A和19007G〉A遗传多态性与儿童急性淋巴细胞白血病（ALL）的相关性。方法：采用聚合酶链反应-限制性内切酶片段长度多态性（PCR-RFLP）的方法,分析183例儿童ALL患者（病例组）和190例健康对照者（对照组）的ERCC1基因型。结果：病例组与对照组中2个基因位点的基因型分布均符合Hardy-Weinberg平衡定律;病例组ERCC1基因C8092A位点的基因型频数分布：AA为15（8.2%）,AC为57（31.1%）,CC为111（60.7%）;对照组该位点基因型频数分布：AA为13（6.8%）,AC为83（43.7%）,CC为94（49.5%）,两组间基因型频数分布差异有显著性（P〈0.05）;CC基因型频数病例组高于对照组（P〈0.05）,其OR为1.57（95%CI为1.04-2.37）;按性别分层,ERCC1G19007和C8092A男性病例组与男性对照组的基因型频数分布差异均有显著性（P〈0.05）;按年龄分层,ERCC1C8092A小于10岁病例组与对照组CC基因型分布频数差异有显著性（P〈0.05）。结论：ERCC 18092CC基因多态性与中国儿童ALL的发生发展有关联性。

Objective To investigate the relationship between two excision repair cross-complementation group 1 （ERCC1） polymorphisms, 8092C〉A and 19007G〉A, and susceptibility to acute lymphohlastic leukemia （ALL） in children. Methods A case-control study consisting of 183 children ALL patients and 190 controls in a Chinese population was performed to examine the ERCC1 genotype. Results For the ERCC1 8092C〉 A polymorphism, individuals carrying the CC genotype had a significant high risk when compared with carrying one A allele gene （AA /AC） patients （P = 0. 030）. For the ERCC1 19007G 〉 A polymorphism, no association was found between ERCC1 polymorphism and ALL risk. Stratification for sex with regard the ERCC1 8092C 〉 A and 19007G 〉A polymorphism form showed a highly significant risk （OR= 1.94, 95% CI 1.09 - 3.41, P = 0. 020 ; OR =2.36, 95% CI 1.05-5.27, P=0. 037） of ALL among males whereas that of females did not show any significant risk. For the ERCC1 8092C〉 A polymorphism, individuals under 10 years old carrying CC genotype had significantly risk （OR=1.76, 95% CI 1.04-2.99; P=0.04）. However, the ERCC1 19007G 〉A polymorphism was not significantly associated with ALL in age. Conclusion These results suggest that the ERCC1 8092CC gene polymorphism is related to the occurrence of ALL in Chinese children.