Genetic variants in AKT1 gene were associated with risk and survival of OSCC in Chinese Han Population.
Genetic variants in AKT1 gene were associated with risk and survival of OSCC in Chinese Han Population.
复制标题
AKT1 基因的遗传变异与中国汉族人群 OSCC 的风险和生存相关。
DOI：
10.1111/jop.12211
复制
发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Chen, Qianming
中科院分区：
文献类型：
--
作者：
Li, Longjiang;Zeng, Xin;Li, Jing;Chen, Qianming
背景
AKT1是PTEN/PI3K/AKT信号转导通路的重要下游效应子。 AKT1 基因的异常表达和遗传变异被认为与多种类型的人类癌症有关，包括 OSCC。本研究的目的是探讨AKT1基因多态性与中国汉族人群口腔鳞状细胞癌之间的可能关联。
方法
共有 182 名 OSCC 患者和 207 名无癌症对照者参加了这项基于医院的研究。通过 Sequenom Mass ARRAY 和 iPLEX-MALDI-TOF 技术对 AKT1 上的 5 个单核苷酸多态性 (SNP)（rs1130214、rs1130233、rs2494732、rs3730358、rs3803300）进行了研究和基因分型。使用卡方检验、SHEsis 软件和 Kaplan-Meier 方法评估所选 SNP 与 OSCC 易感性和进展之间的关系。
结果
在SNP位点rs1130214（P = 0.006）和rs3803300（杂合子和纯合突变体分别为P = 0.033和P = 0.003）处，病例组和对照组之间观察到基因型分布存在显着差异。在单倍型分析中，含有rs1130214和rs3803300突变型等位基因的单倍型H4也与OSCC风险相关（OR = 1.974，95% CI = 1.048-3.718）。此外，rs3730358 的 CT 基因型与 OSCC 进展风险较高相关（HR = 2.466，95% CI = 1.017-5.981）。
结论
我们的结果表明rs1130214和rs3803300与中国汉族人群的OSCC易感性相关。此外，rs3730358可能与OSCC患者的无进展生存时间相关，表明该SNP可能是OSCC的潜在预后标志物。
BACKGROUND
AKT1 is an important downstream effector of PTEN/PI3K/AKT signal transduction pathway. Aberrant expression and genetic variant of AKT1 gene are suggested to be involved in several types of human cancers, including OSCC. The aim of this study was to investigate the possible association between AKT1 gene polymorphisms and OSCC in Chinese Han Population.
METHODS
A total of 182 OSCC patients and 207 cancer-free controls were enrolled for this hospital-based study. Five single-nucleotide polymorphisms (SNPs) on AKT1 (rs1130214, rs1130233, rs2494732, rs3730358, rs3803300) were investigated and genotyped by Sequenom Mass ARRAY & iPLEX-MALDI-TOF technology. Chi-square test, SHEsis software, and Kaplan-Meier method were used to evaluate the relationship between selected SNPs and OSCC susceptibility and progression.
RESULTS
Significant difference of genotype distribution was observed between cases and control group at SNP sites rs1130214 (P = 0.006) and rs3803300 (P = 0.033, P = 0.003 for heterozygote and homozygous mutant, respectively). In the haplotype analysis, haplotype H4 which contained mutant-type allele of rs1130214 and rs3803300 was also related to OSCC risk (OR = 1.974, 95% CI = 1.048-3.718). Moreover, CT genotype of rs3730358 was associated with higher risk of OSCC progression (HR = 2.466, 95% CI = 1.017-5.981).
CONCLUSION
Our results indicated that rs1130214 and rs3803300 were related to OSCC susceptibility in Chinese Han Population. In addition, rs3730358 might be associated with progression-free survival time of OSCC patients, suggesting that this SNP could be a potential prognosis marker for OSCC.
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