NF1 and PTEN gene polymorphisms and the susceptibility to soft tissue sarcomas in a Chinese population: A case-control study.

• 影响指数: 4.401
• 发表时间: 02 2021
• 来源期刊: Exp Mol Pathol
• DOI: 10.1016/j.yexmp.2021.104603
• PMID: 33422488
• 文章类型: Journal Article
• 中科院分区: Q2
• 方向: 医学
• 作者列表: Zhang P,Liu J,Li X,Gao M,Feng F,Wang W,Zhang Q,Yao W

关键词: Gene polymorphisms; NF1; PTEN; Soft tissue sarcomas; rs2905789

Mesh: Adult; Asians / genetics; Biomarkers, Tumor / genetics; Case-Control Studies; China / epidemiology; Female; Follow-Up Studies; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Male; Middle Aged; Neurofibromin 1 / genetics; PTEN Phosphohydrolase / genetics; Polymorphism, Single Nucleotide; Prognosis; Sarcoma / epidemiology genetics pathology

Abstract

The aim of this study was to assess the association between NF1 and PTEN gene polymorphisms and the risk of soft tissue sarcomas (STSs). This case-control study collected peripheral blood from 136 patients with STSs and 124 healthy controls. Six single nucleotide polymorphisms (SNPs) of the NF1 gene and five SNPs of the PTEN gene were investigated and genotyped using the SNaPshot assay. The association between the polymorphisms and the risk of STSs was estimated using unconditional logistic regression analysis. The results showed that individuals with the TC/CC genotype for NF1 rs2905789 displayed a significantly increased risk of STSs compared with individuals with wild-type TT (OR = 1.702, 95% CI = 1.002-2.890, P = 0.049). There were no significant differences in the distribution of the genotype or the allele frequencies of the polymorphisms of the NF1 and PTEN genes between the STSs patients and the controls in a Chinese population. Therefore, this study\'s results suggest that individuals carrying the TC/CC genotype for NF1 rs2905789 may be susceptible to STSs.