与儿童脑肿瘤相关的AICDA/CASP14基因变异

Genetic variants of AICDA/CASP14 associated with childhood brain tumor.

作者信息

Jeon S, Han S, Lee K, Choi J, Park S K, Park A K, Ahn H S, Shin H Y, Kang H J, Koo H H, Seo J J, Choi J E, Kim H, Ahn Y, Kang D

机构信息

Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, College of Medicine or College of Pharmacy, Seoul National University, Seoul, Republic of Korea.

出版信息

Genet Mol Res. 2013 Jun 20;12(2):2024-31. doi: 10.4238/2013.January.30.1.

DOI:10.4238/2013.January.30.1

PMID:23408445

Abstract

We conducted a hospital-based case-control study in Korea to investigate whether apoptosis- and cell cycle control-related genes are associated with childhood brain tumor. Incident brain tumor cases (N = 70) and non-cancer controls (N = 140), frequency-matched by age and gender, were selected from 3 teaching hospitals in Seoul between 2003 and 2006. Tag single nucleotide polymorphisms (SNPs) (N = 297) in 30 genes related to apoptosis and cell cycle control were selected using a pairwise linkage-disequilibrium-based algorithm. Five tag SNPs in 2 genes (AICDA and CASP14) remained significant after adjusted multiple tests. The most significant association with childhood brain tumor risk was for IVS1-401G>C in the AICDA gene [odds ratio (OR) = 2.8; 95% confidence interval (95%CI) = 1.25-6.46]; the polymorphism *9276A>C of CASP14 was associated with decreased brain tumor risk (OR = 0.4; 95%CI = 0.19-0.95). We concluded that genetic polymorphisms in AICDA and CASP14 are associated with risk for brain tumor in Korean children.

摘要

我们在韩国开展了一项基于医院的病例对照研究，以调查与细胞凋亡和细胞周期调控相关的基因是否与儿童脑肿瘤有关。2003年至2006年间，从首尔的3家教学医院选取了新发脑肿瘤病例（N = 70）和非癌症对照（N = 140），并按照年龄和性别进行频率匹配。使用基于成对连锁不平衡的算法，从30个与细胞凋亡和细胞周期调控相关的基因中选择了标签单核苷酸多态性（SNP）（N = 297）。经过多重检验校正后，2个基因（AICDA和CASP14）中的5个标签SNP仍然具有显著性。与儿童脑肿瘤风险最显著相关的是AICDA基因中的IVS1-401G>C [比值比（OR）= 2.8；95%置信区间（95%CI）= 1.25 - 6.46]；CASP14基因的*9276A>C多态性与降低脑肿瘤风险相关（OR = 0.4；95%CI = 0.19 - 0.95）。我们得出结论，AICDA和CASP14基因的遗传多态性与韩国儿童脑肿瘤风险相关。