Association of genetic polymorphisms in PTEN and additional gene-gene interaction with risk of esophageal squamous cell carcinoma in Chinese Han population

2015 ◽  
Vol 29 (8) ◽  
pp. 944-949 ◽  
Author(s):  
X. Xu ◽  
G. Chen ◽  
L. Wu ◽  
L. Liu
2015 ◽  
Vol 2015 ◽  
pp. 1-7
Author(s):  
Yu-Xia Yun ◽  
Li-Ping Dai ◽  
Peng Wang ◽  
Kai-Juan Wang ◽  
Jian-Ying Zhang ◽  
...  

Objectives. To investigate the association between three single nucleotide polymorphisms (SNPs) in the X-ray repair cross complementing 1 gene (XRCC1) and the risk of esophageal squamous cell carcinoma (ESCC) in Chinese population.Methods. A case-control study including 381 primary ESCC patients recruited from hospital and 432 normal controls matched with patients by age and gender from Chinese Han population was conducted. The genotypes of threeXRCC1polymorphisms at −77T>C (T-77C), codon 194 (Arg194Trp), and codon 399 (Arg399Gln) were studied by means of polymerase chain reaction-restriction fragment length polymorphism techniques (PCR-RFLP). Unconditional logistic regression model and haplotype analysis were used to estimate associations of these three SNPs inXRCC1gene with ESCC risk.Results. Polymorphisms at these three sites inXRCC1gene were not found to be associated with risk for developing ESCC; however the haplotypeCcodon 194Gcodon 399C-77T>Cwas significantly associated with reduced risk of ESCC (OR: 0.62, 95% CI: 0.40–0.96) upon haplotype analysis.Conclusion. These results suggested that the gene-gene interactions might play vital roles in the progression on esophageal cancer in Chinese Han population and it would be necessary to confirm these findings in a large and multiethnic population.


2020 ◽  
Vol 2020 ◽  
pp. 1-10
Author(s):  
Chongwen Xu ◽  
Peng Han ◽  
Wanli Ren ◽  
Hao Dai ◽  
Yanxia Bai ◽  
...  

Purpose. Head and neck squamous cell carcinoma (HNSCC) is the most common malignant tumors in the world. Genetic variants have an important role in HNSCC progression. Our study is aimed at exploring the relationship between MIR17HG polymorphisms and HNSCC risk in the Chinese Han population. Methods. We recruited 537 HNSCC cases and 533 healthy subjects to detect the correlation of six polymorphisms in MIR17HG with HNSCC susceptibility. The associations were evaluated by computing odds ratios (ORs) and 95% confidence intervals (CIs) using logistic regression analysis. Results. Our study revealed that rs7336610 (OR 1.77, 95 % CI = 1.09 ‐ 2.86 , and p = 0.021 ) and rs1428 (OR 1.73, 95 % CI = 1.07 ‐ 2.81 , and p = 0.025 ) are strongly associated with increased susceptibility to HNSCC in men. Besides, rs17735387 played a crucial protective role in stage III/IV HNSCC patients (OR 0.34, 95 % CI = 0.12 ‐ 0.95 , and p = 0.040 ) compared with stage I/II. Conclusion. Our study firstly indicated that MIR17HG polymorphisms are significantly associated with HNSCC susceptibility, which suggests that MIR17HG has a potential role in the occurrence of HNSCC.


2021 ◽  
Author(s):  
Jia Yang ◽  
Yingying Wang ◽  
Zhiling Yan ◽  
Chuanyin Li ◽  
Shuyuan Liu ◽  
...  

Abstract Background The Tumour necrosis factor-α (TNF-α) gene plays an important role in the host immune response. Recent studies have found that TNF-α also plays an important role in cancer. Polymorphism of the TNF-α promoter region is considered to influence its transcription and be a risk factor for tumorigenesis. In the current study, we evaluated the role of TNF-α promoter region polymorphisms in susceptibility to cervical intraepithelial neoplasia (CIN) and cervical cancer (CC). Methods A total of 2,732 subjects, including 1,173 healthy controls, 579 patients with CIN and 980 patients with cervical cancer in a Chinese Han population, were selected for the current study. Five SNPs in the TNF-α promoter, rs1799964 (C > T), rs800630 (A > C), rs1799724 (C > T), rs1800629 (A > G) and rs361525 (A > G), were selected and genotyped using TaqMan Assays. The association of these SNPs with cervical cancer was evaluated among healthy controls and CIN and cervical cancer patients. Results The frequency distribution of rs1800629 and rs361525 alleles was significantly different between the cervical cancer group and the control group (P = 0.009 and P = 0.002). The A alleles of rs1800629 and rs361525 were found to be a protective factor (OR = 0.722; 95%CI = 0.564–0.923) and a risk factor (OR = 1.693; 95%CI = 1.205–2.378) for cervical cancer, respectively. In comparison of different pathological types of cervical cancer group and the control group, the distribution of allele frequencies of rs1800629 and rs361525 was significantly different between the squamous cell carcinoma and control groups (P = 0.002 and P < 0.001). The A alleles of rs1800629 and rs361525 were protective (OR = 0.659; 95%CI = 0.502–0.864) and risk (OR = 1.868; 95%CI = 1.317–2.648) factors for cervical squamous cell carcinoma, respectively. Conclusion rs1800629 and rs361525 in the TNF-α promoter are associated with susceptibility to cervical cancer and squamous cell carcinoma in the Chinese Han population.


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