Association of genetic variations in mTOR with risk of childhood acute lymphoblastic leukemia in a Chinese population
Association of genetic variations in mTOR with risk of childhood acute lymphoblastic leukemia in a Chinese population
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DOI：
10.3109/10428194.2011.628062
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发表时间：
2012-05-01
影响因子：
2.6
通讯作者：
Fang, Yongjun
中科院分区：
文献类型：
--
作者：
Huang, Lizhen;Huang, Jie;Fang, Yongjun
哺乳动物靶标雷帕霉素(MTOR)是一种重要的蛋白激酶，调节细胞的存活和凋亡。为了确定mTOR基因变异是否与中国儿童急性淋巴细胞白血病(ALL)的风险相关，我们在一项病例对照研究中对mTOR的两个标签单核苷酸多态(SNPs)(rs2536和rs2295080)进行了检测。我们观察到mTOR rs2536的TC变异型与儿童ALL的风险显著降低相关(调整后的优势比[OR]=0.67，95%可信区间[CI]=0.46-0.96)，并且这种关联在高危ALL和T表型ALL组中更为明显。此外，我们还发现，仅在高危ALL组(校正OR=0.54，95%CI=0.32-0.91)和T表型ALL组(校正OR=0.29，95%CI=0.10-0.84)中，TC/CC联合基因型降低了ALL的风险。提示mTOR rs2536基因多态与中国人群儿童ALL易感性有关。
The mammalian target of rapamycin (mTOR) is an important protein kinase regulating cell survival and apoptosis. To determine whether genetic variations in mTOR are associated with risk of acute lymphoblastic leukemia (ALL) in Chinese children, we genotyped two tag single nucleotide poymorphisms (SNPs) in mTOR (rs2536 and rs2295080) in a case-control study. We observed that the variant genotype TC of mTOR rs2536 was associated with a significantly decreased risk of childhood ALL (adjusted odds ratio [OR] = 0.67, 95% confidence interval [CI] = 0.46-0.96), and the association was more pronounced in high-risk ALL and T-phenotype ALL groups. Additionally, we found that the combined genotypes TC/CC decreased the risk of ALL only in the high-risk ALL group (adjusted OR = 0.54, 95% CI = 0.32-0.91) and T-phenotype ALL group (adjusted OR = 0.29, 95% CI = 0.10-0.84). These results suggest that the mTOR rs2536 polymorphism is involved in the susceptibility to childhood ALL in a Chinese population.