Quantitative assessment of TIM-3 polymorphisms and cancer risk in Chinese Han population.
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ABSTRACT:
SUBMITTER: Gao X
PROVIDER: S-EPMC5094960 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:Liver cancer is one of the most common cancers in the world. The primary aim of this research was to discover the correlation between single nucleotide polymorphisms (SNPs) of the MIR155HG and liver cancer risk. METHODS:The selected SNPs in MIR155HG were genotyped utilizing the Agena MassARRAY platform. We evaluated the correlation between MIR155HG polymorphisms and Liver cancer by genetic model analysis, stratification analysis and haplotype analysis. Relative risk of Liver cancer was shown based on odds ratios (ORs) and 95% confidence intervals (95% CIs). RESULTS:Our results uncovered that rs12482371 and rs1893650 in the MIR155HG were associated with protection against Liver cancer. And the rs928883 was related to increase risk of Liver cancer. Furthermore, apart from rs77218221, other selected SNPs formed two LD blocks, and haplotype "GATAG" in block 2 elevated individual liver cancer risk. CONCLUSIONS:MIR155HG gene polymorphism may be correlated to Liver cancer susceptibility in Han Chinese population, particularly in males and aged ?55?years.
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Project description:RTEL1 (regulator of telomere elongation helicase 1; OMIM 608833) gene polymorphisms were linked to lung cancer (LC) susceptibility in a cancer genome-wide association study (GWAS) Here, we assessed whether seven previously reported RTEL1 polymorphisms influenced LC risk in Han Chinese population. All study samples (554 LC cases and 696 cancer-free controls) were collected from the Affiliated Hospital of Xizang Minzu University in China. We assessed associations between SNPs and LC risk using various several genetic models (codominant, dominant, recessive, overdominant, and additive). Whereas rs2738780 showed a protective effect against LC (Odds ratio (OR) = 0.80 ;95% confidence interval (CI): 0.638 = 0.998; p = 0.048), rs7261546(OR = 4.16; 95% CI: 1.35-12.82; p = 0.007), rs6062299(OR=5.08; 95% CI: 1.43-18.10; p = 0.005) and rs3787098(OR = 5.10; 95% CI: 1.43-18.15; p = 0.004) were all associated with increased LC susceptibility (recessive model). Haplotype analysis suggested that ''CTC'' was associated with a 0.8-fold decrease in LC risk (OR = 0.80, 95% CI, 0.63-1.00; Pearson's p = 0.05). These findings suggest a potential association between RTEL1 polymorphisms and LC risk in a Chinese Han population.
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Project description:AIMS AND BACKGROUND:Breast cancer is one of the most common neoplasms among women in many developing countries including China, and is the leading cause of female cancer-related deaths worldwide. METHODS:In the current study, we analyzed the relationship between 14 tag single-nucleotide polymorphisms (tSNPs) and breast cancer risk in the Han Chinese population including 185 breast cancer patients and 199 healthy women controls on the different types of breast cancer and menopausal status. RESULTS:Overall, we found rs2981579 in the FGFR2 gene, and rs2380205 were associated with breast cancer susceptibility. CONCLUSIONS:These findings indicate that FGFR2 was associated with breast cancer risk in the Han Chinese population, support the hypothesis that the applicability of a common susceptibility locus must be confirmed among genetically different populations.
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Project description:This study was designed to investigate the associations between E-cadherin (CDH1) gene polymorphisms and pancreatic cancer (PC) risk predisposition. We undertook a case-control study to analyze three E-cadherin polymorphisms (+54T>C, -160C>A and -347G?GA) in an Han Chinese population, by extraction of genomic DNA from the peripheral blood of 368 patients with PC and 376 control participants and performed E-cadherin genotyping using DNA sequencing. Overall, no statistically significant association was observed in +54T>C. Nevertheless, -347G?GA genotype was at increased risk of PC (P=0.022; odds ratio (OR)=1.128, CI 95%: 1.017-1.251). Furthermore, -347GA/GA genotype pancreatic cancers were more significantly common in cases of advanced T stage, lymph node metastasis and clinical pathological stage than G or G/GA genotypes PC. However, -160C>A genotype demonstrated a protective effect in PCs (P=0.017; OR=0.883, CI 95%: 0.798-0.977). In conclusion, polymorphism in -347G?GA was observed to be associated with susceptibility of PC. However, -160C>A polymorphism indicated to play a protective role in susceptibility to PC. Nevertheless, further investigation with a larger sample size is needed to support our results.
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Project description:Caveolin-1(CAV-1) was demonstrated to be a tumor suppressor gene and be implicated in the development of breast cancer (BC). Numerous potentially functional polymorphisms in CAV-1 have been identified, but their effects on BC were not clear. This case-control study aims to evaluate the relationship between CAV-1 polymorphisms and BC risk. 560 BC patients and 583 healthy controls were enrolled in the present study, all from Chinese Han population. We detected 3 single nucleotide polymorphisms (rs3807987, rs1997623, and rs7804372) in CAV-1 using the Sequenom MassARRAY method. The association between CAV-1genotypes and BC risk was assessed in six genetic models by calculating the odds ratio (OR) and 95% confidence intervals (95% CIs) with χ2-test. The CAV-1 rs3807987 polymorphism was observed to increase the risk of BC And the A allele of rs3807987 relates to a larger tumor size (≥2cm) and lower incidence of PR-positive BC while the AA genotype of rs7804372 associates with a higher ER and Her-2 positive rate among BC patients. In addition, Ars1997623Grs3807987Trs7804372 haplotype was linked to a decreased risk of BC (OR =0.64, 95%CI=0.44-0.93), whereas Crs1997623Ars3807987Trs7804372 haplotype was related to an increased BC risk (OR =1.74, 95%CI=1.04-2.92). Our study suggests that CAV-1 rs3807987 can increase the BC risk among Chinese Han women. And the rs3807987 and rs7804372 in CAV-1 may serve as predictors for prognosis of BC.
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Project description:Upward trends in the incidence and mortality rates of colorectal cancer (CRC) in China over the past decade mean that it is critical to improve survival outcomes for patients with this malignancy. Analysis of genetic variants may identify biomarkers that have a role in CRC susceptibility and clinical outcomes in Chinese patients with CRC. RAD52 is a key mediator during DNA strand exchange and homologous recombination within mammalian cells. In this study, we explored the effects of RAD52 single nucleotide polymorphisms (SNPs) in the susceptibility and clinicopathological characteristics of Chinese Han patients with CRC. Five RAD52 SNPs (rs1051669, rs10774474, rs11571378, rs6489769, and rs7963551) were analyzed using TaqMan SNP genotyping in 281 patients with CRC and 309 healthy controls. Among those aged over 60 years in the total population, carriers of the variant C allele or at least one T allele of the rs1051669 SNP were at a lower risk of CRC than carriers of the wild-type CC variant of rs1051669, while in those carrying the rs7963551 SNP, the GT or GT+GG alleles were associated with an increased risk of CRC compared with patients carrying TT alleles. We indicated a significant correlation between RAD52 rs7963551 polymorphism and lymph node metastasis in CRC patients. In all patients, the T-T-T-T-T, C-T-T-T-T, and C-T-A-C-T haplotypes were associated with an increasing risk of CRC. Our findings suggest that 4 RAD52 SNPs (rs1051669, rs10774474, rs11571378, and rs6489769) might contribute to the prediction of CRC susceptibility. In conclusion, our study demonstrated that RAD52 polymorphisms were associated with CRC in a Chinese Han cohort.
| S-EPMC5728889 | biostudies-literature
Project description:We explored the association between single nucleotide polymorphisms (SNPs) in ACYP2 and liver cancer risk. Thirteen SNPs were genotyped in 473 cases and 564 controls. Genetic model, linkage disequilibrium, and haplotype analyses were performed to evaluate the association between ACPY2 SNPs and liver cancer risk. We found that rs6713088 (G allele: odds ratio [OR] = 1.27, 95% confidence interval [CI]: 1.07-1.52, P = 0.007; GG vs. CC: OR = 1.49, 95% CI: 1.02-2.1, P = 0.038), rs843711 (T allele: OR = 1.29, 95% CI: 1.09-1.54, P = 0.004; TT vs. CC: OR = 1.62, 95% CI: 1.13-2.31, P = 0.008), rs843706 (A allele: OR = 1.30, 95% CI: 1.09-1.55, P = 0.003; AA vs. CC: OR = 1.62, 95% CI: 1.13-2.31, P = 0.008), and rs843645 (GG vs. AG: OR = 1.40, 95% CI: 1.07-1.82, P = 0.014) were associated with an increased risk of liver cancer. In contrast, rs1682111 (A allele: OR = 0.77, 95% CI: 0.640-0.94, P = 0.007; AT vs. TT: OR = 0.69, 95% CI: 0.53-0.91, P = 0.007), rs843720 (additive model: OR = 0.82, 95% CI: 0.68-1.00, P = 0.049), ATATCGCC and CG haplotypes (OR = 0.76, 95% CI: 0.62-0.92, P = 0.006; OR = 0.78, 95% CI: 0.65-0.93, P = 0.006, respectively) were significantly decreased liver cancer risk. Our results confirmed that rs6713088, rs843645, rs843711 and rs843706 were significantly increased liver cancer risk, but rs1682111, rs843720 and haplotypes (ATATCGCC and CG) were significantly decreased liver cancer risk in a Han Chinese population.
| S-EPMC5620206 | biostudies-literature
Project description:BackgroundZBTB20 was overexpressed in esophageal cancer (EC). The study aimed to identify genotypes of ZBTB20 polymorphisms and their correlation with EC occurrence in a Chinese Han population.MethodsFour single nucleotide polymorphisms (SNPs) in ZBTB20 were randomly selected for genotyping through Agena MassARRAY system among 525 EC patients and 522 healthy controls. Multiple genetic models were applied to assess the association of ZBTB20 polymorphisms with EC susceptibility by calculating odds ratios (ORs) with 95% confidence intervals (CIs).ResultsRs10934270 was associated with lower EC susceptibility (OR = 0.64, p = 0.004) with statistical power >90% in overall analysis. Specifically, the correlation of rs10934270 with EC susceptibility was found in subgroups including patients with esophageal squamous cell carcinoma (ESCC), males, subjects aged ≤65 years, subjects with BMI ≤ 24 kg/m2, and smokers. Rs9841504 might be a risk-increasing factor for ESCC. Moreover, rs9288999 in subjects aged ≤65 years and rs73230612 in females were related to lower EC risk.ConclusionOur research is the first to report that ZBTB20 rs10934270 is associated with reduced EC susceptibility in the Chinese Han population. These data provide a scientific basis for understanding the influence of the ZBTB20 gene on EC occurrence.
| S-EPMC9512063 | biostudies-literature
Project description:Foxp3 plays important roles in autoimmune and inflammatory diseases as well as human malignancies. This study aimed to investigate the association between Foxp3 gene polymorphisms and the susceptibility to differentiated thyroid cancers (DTC). Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 350 DTC patients and 306 healthy controls. FOXP3 relative expression was measured by real-time quantitative PCR (qRT-PCR). AA/AC genotype of Foxp3-rs3761548 was associated with a higher risk of DTC. The frequency of Foxp3-rs2280883 CC/CT genotype was lower in DTC patients. Besides, the AA/AC genotype of rs3761548 was more frequent in female DTC than male DTC. The association between two single nucleotide polymorphisms (SNPs) and clinical characteristics of DTC was further analyzed. We found that rs3761548 AA/AC genotype was more frequent in severe DTC patients (tumor diameter >1 cm) compared with the relative tender DTC patients (tumor diameter <1 cm). On the contrast, the frequency of rs2280883 CC/CT genotype was lower in severe DTC patients. In addition, the Foxp3 relative expression in DTC with AA/AC genotype of rs3761548 was higher than that of DTC with CC genotype. Our findings suggested that Foxp3 polymorphisms were associated with the risk of DTC in Chinese Han population.
| S-EPMC6817120 | biostudies-literature
Project description:BackgroundColorectal cancer is the third most common cancer worldwide. Recently, an increasing number of evidences suggest that genetic susceptibility plays an important role in the occurrence of colorectal cancer. This study aimed to better understand the influence of MIR17HG polymorphisms on colorectal cancer susceptibility in the Chinese Han population.MethodsWe recruited 514 patients with colorectal cancer and 510 healthy controls to investigate the association between polymorphisms of MIR17HG and risk of colorectal cancer in the Chinese Han population. Genotyping was performed with the Agena MassARRAY platform. We used the χ2 test to compare the distributions of single nucleotide polymorphisms (SNPs) allele and genotypes frequencies between cases and controls. Odds ratios and 95% confidence intervals were calculated by logistic regression analysis to evaluate the association under genetic models. Linkage disequilibrium between the five SNPs was assessed using the Haploview software.ResultsOverall analysis found that rs7336610 and rs1428 and haplotype CTAGA were significantly associated with increased risk of colorectal cancer. However, we found rs7318578 was associated with a decreased risk of colorectal cancer in the dominant model. Stratification analysis showed that rs7336610, rs7318578, and rs1428 were also associated with rectal cancer risk. Gender stratification analysis found that rs7336610, rs7318578, rs17735387, and rs1428 were significantly associated with colorectal cancer risk in males.ConclusionIn conclusion, this study indicated that the polymorphisms of MIR17HG were associated with colorectal cancer risk. Therefore, our findings may provide new insights into the development of colorectal cancer. Further association and functional studies are of great importance to confirm these results and to define the potential biological mechanism of colorectal cancer.
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