PTEN基因多态性与肝癌风险的关联。
Association of PTEN gene polymorphisms with liver cancer risk.
作者信息
Li Hong-Guang, Liu Fang-Feng, Zhu Hua-Qiang, Zhou Xu, Lu Jun, Chang Hong, Hu Jin-Hua
机构信息
Department of Hepatobiliary Surgery, Shandong Provincial Hospital Affiliated to Shandong University Jinan 250021, Shandong, China.
Department of Gastroenterology Surgery, Shandong Provincial Hospital Affiliated to Shandong University Jinan 250021, Shandong, China.
出版信息
Int J Clin Exp Pathol. 2015 Nov 1;8(11):15198-203. eCollection 2015.
OBJECTIVE
To find out if there are any relationship between three single nucleotide polymorphisms (SNPs) of phosphatase and tensin homolog (PTEN) gene (rs1234213, rs1234220, and rs2299939) and the susceptibility of liver cancer.
METHODS
Genotypes of the three SNPs in the PTEN gene were achieved utilizing polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Comparison of genotypes and alleles distribution differences between the case and the control subjects was accomplished with χ(2) test. The analysis of linkage disequilibrium (LD) and haplotypes of the three SNPs was performed using SHEsis software. We adopted odds ratios (ORs) with 95% confidence intervals (95% CIs) to show the relative risk of liver cancer.
RESULTS
TC genotype and C allele of rs1234220 polymorphism showed much more frequently in cases than in controls, reflecting that the TC genotype and the C allele may be linked to the increased risk of liver cancer (OR=2.225, 95% CI=1.178-4.204; OR=1.941, 95% CI=1.124-3.351). Rs2299939 polymorphism showed an opposite result that the GT genotype probably reduce the risk of liver cancer (OR=0.483, 95% CI=0.259-0.900). Statistical significance was not found in the distribution differences of the genotypes of rs1234213 between two groups. LD and haplotype analysis results of the three SNPs showed that the T-C-G haplotype frequency was much higher in cases than in healthy objects, which proved that the T-C-G haplotype might be a susceptibility haplotype for liver cancer (OR=3.750, 95% CI=1.396-10.077).
CONCLUSIONS
PTEN gene polymorphisms might relate to liver cancer risk.
目的
探究磷酸酶与张力蛋白同源物（PTEN）基因的三个单核苷酸多态性（SNP）（rs1234213、rs1234220和rs2299939）与肝癌易感性之间是否存在关联。
方法
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测PTEN基因中三个SNP的基因型。用χ²检验比较病例组和对照组之间基因型和等位基因分布的差异。使用SHEsis软件对三个SNP进行连锁不平衡（LD）和单倍型分析。采用比值比（OR）及95%置信区间（95%CI）来表示患肝癌的相对风险。
结果
rs1234220多态性的TC基因型和C等位基因在病例组中的出现频率显著高于对照组，表明TC基因型和C等位基因可能与肝癌风险增加有关（OR = 2.225，95%CI = 1.178 - 4.204；OR = 1.941，95%CI = 1.124 - 3.351）。rs2299939多态性则呈现相反结果，GT基因型可能降低肝癌风险（OR = 0.483，95%CI = 0.259 - 0.900）。两组间rs1234213基因型分布差异无统计学意义。三个SNP的LD和单倍型分析结果显示，病例组中T-C-G单倍型频率显著高于健康对照组，证明T-C-G单倍型可能是肝癌的易感单倍型（OR = 3.750，95%CI = 1.396 - 10.077）。
结论
PTEN基因多态性可能与肝癌风险相关。
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