• 제목/요약/키워드: Single cell analysis/methods

검색결과 202건 처리시간 0.024초

Case-control Study of Single Nucleotide Polymorphisms of PSCA and MUC1 Genes with Gastric Cancer in a Chinese

  • Li, Fang;Zhong, Mei-Zuo;Li, Jian-Huang;Liu, Wei;Li, Bin
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권6호
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    • pp.2593-2596
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    • 2012
  • Aims: A case-control study of 300 gastric cancer patients and 300 controls was conducted to investigate whether the polymorphisms rs2294008 in PSCA and rs2070803 in MUC1 might be associated with risk of gastric cancer in a Chinese population. Methods: Single nucleotide polymorphisms (SNPs) were genotyped using the Sequenom MassARRAY platform. Results: The data showed that the rs2294008 TT genotype increased gastric cancer risk to an adjusted odds ratio (OR) of 2.26 (95%CI 1.25-4.07), TC to 1.72 (95%CI 1.23-2.42) and TC/TT to 1.81 (95% CI 1.31-2.50), while the rs2070803 GA genotype was associated with a decrease in risk to an adjusted OR of 0.42 (95% CI 0.28-0.62) and rs2070803 GA / AA to 0.46 (95% CI 0.32-0.67). Further stratification analysis revealed that rs2294008 in PSCA consistently increased risk of both intestinal and diffuse-type gastric cancers. The effect of rs2070803 in MUC1 was noteworthily also consistent with both subtypes. Conclusions: Our study suggested rs2294008 in the PSCA gene to be associated with increased risk of gastric cancer and rs2070803 in MUC1 to play a protective role in a Chinese population.

Understanding Epistatic Interactions between Genes Targeted by Non-coding Regulatory Elements in Complex Diseases

  • Sung, Min Kyung;Bang, Hyoeun;Choi, Jung Kyoon
    • Genomics & Informatics
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    • 제12권4호
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    • pp.181-186
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    • 2014
  • Genome-wide association studies have proven the highly polygenic architecture of complex diseases or traits; therefore, single-locus-based methods are usually unable to detect all involved loci, especially when individual loci exert small effects. Moreover, the majority of associated single-nucleotide polymorphisms resides in non-coding regions, making it difficult to understand their phenotypic contribution. In this work, we studied epistatic interactions associated with three common diseases using Korea Association Resource (KARE) data: type 2 diabetes mellitus (DM), hypertension (HT), and coronary artery disease (CAD). We showed that epistatic single-nucleotide polymorphisms (SNPs) were enriched in enhancers, as well as in DNase I footprints (the Encyclopedia of DNA Elements [ENCODE] Project Consortium 2012), which suggested that the disruption of the regulatory regions where transcription factors bind may be involved in the disease mechanism. Accordingly, to identify the genes affected by the SNPs, we employed whole-genome multiple-cell-type enhancer data which discovered using DNase I profiles and Cap Analysis Gene Expression (CAGE). Assigned genes were significantly enriched in known disease associated gene sets, which were explored based on the literature, suggesting that this approach is useful for detecting relevant affected genes. In our knowledge-based epistatic network, the three diseases share many associated genes and are also closely related with each other through many epistatic interactions. These findings elucidate the genetic basis of the close relationship between DM, HT, and CAD.

No Association between Tumor Necrosis Factor-alpha Gene Polymorphisms and Lung Cancer Risk

  • Kim, Jin Hee;Hong, Yun-Chul
    • Environmental Analysis Health and Toxicology
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    • 제28권
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    • pp.12.1-12.5
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    • 2013
  • Objectives The role of genetic polymorphisms of tumor necrosis factor-alpha (TNF-${\alpha}$) for lung cancer development was evaluated. Methods Genotypes of the TNF-${\alpha}$ polymorphisms, -1210C>T, -487A>G, -417A>G, IVS1+123G>A, and IVS3+51A>G, were determined in 616 lung cancer cases and 616 lung cancer-free controls. Results After adjusting for body mass index and smoking, each TNF-${\alpha}$ genotype or haplotype composed of five TNF-${\alpha}$ single nucleotide polymorphisms did not show an association with lung cancer risk (p>0.05). The statistical power was found to be 88.4%, 89.3%, 93.3%, 69.7%, and 93.9% for 1210C>T, -487A>G, -417A>G, IVS1+123G>A, and IVS3+51A>G, respectively. Furthermore, the effects of each SNP or haplotype on lung cancer risk were not found to be different according to the cell type of lung cancer (p>0.05). In the repeated analysis with only subjects without other diseases related to inflammation, there was also no association between polymorphisms or haplotypes of the TNF-${\alpha}$ gene and lung cancer risk (p>0.05). Conclusions This study found no association between common variants of the TNF-${\alpha}$ gene and lung cancer risk.

Parameters for Predicting Granulosa Cell Tumor of the Ovary: A Single Center Retrospective Comparative Study

  • Yesilyurt, Huseyin;Tokmak, Aytekin;Guzel, Ali Irfan;Simsek, Hakki Sencer;Terzioglu, Serdar Gokay;Erkaya, Salim;Gungor, Tayfun
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권19호
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    • pp.8447-8450
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    • 2014
  • Background: To evaluate factors for predicting the granulosa cell tumor of the ovary (GCTO) pre-operatively. Materials and Methods: This retrospective designed study was conducted on 34 women with GCTO as the study group and 76 women with benign ovarian cysts as the control group. Data were recorded from the hospital database and included age, body mass index (BMI), parity, serum estradiol ($E_2$) levels, diameter of the mass, ultrasonographic features, serum CA125 level, risk of malignancy index (RMI), duration of menopause, postoperative histopathology result, and the neutrophil/lymphocyte ratio (NLR). Results: The demographic parameters showed no statistically significant difference between the groups. Preoperative diameter of the mass, CA125, duration of menopause, and neutrophil/lymphocyte ratio were significantly different between the groups. ROC curve analysis demonstrated that diameter of the mass, serum estradiol and Ca125 levels, RMI and NLR may be discriminative factors in predicting GCTO preoperatively. Conclusions: In conclusion, we think that a careful preoperative workshop including diameter of the mass, serum estradiol ($E_2$) and Ca125 levels, RMI and NLR may predict GCTO and may prevent incomplete approaches.

Impact of Inadequate Doses of Rituximab in the Treatment of Diffuse Large B Cell Lymphoma in Malaysian Patients

  • Gan, Gin Gin;Subramaniam, Rajaletchumy;Bee, Ping Chong;Chin, Edmund Fui Min;Abdul-Halim, Habibah;Tai, Mei Chee
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권4호
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    • pp.1703-1706
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    • 2014
  • Background: The current standard treatment for patients with newly diagnosed diffuse large B cell lymphoma (DLBCL) is rituximab combined with cyclophosphamide, doxorubicin, vincristine and prednisolone (CHOP). A significant number of patients were not treated with recommended dose of rituximab due to limited financial resources in Malaysia. This study evaluates the efficacy of R-CHOP like chemotherapy in Malaysian patients with DLBCL. Materials and Methods: The study comprised a retrospective analysis of patients with DLBCL treated at a single centre. The outcome was compared with patients who were treated with R-CHOP like and CHOP like chemotherapy. Patients who were treated with lower dose of rituximab was subanalysed for outcome. Results: A total of 86 patients who had CHOP-like chemotherapy were included. Only 39 (45%) patients had rituximab and only 12 (29%) patients had the recommended dose. The overall response (OR) and complete response (CR) rates were 88% and 81% respectively. There was no significant difference in OR and CR in patients who had rituximab and those without rituxmab. Those with International Prognostic Index (IPI) score of ${\leq}2$ had significant higher CR rate, progression free survival (PFS) and overall survival (p<0.001). Conclusions: The lack of significant improvement in CR and DFS in our patients may be due to an inadequate dose of rituximab.

Upregulation of STK15 in Esophageal Squamous Cell Carcinomas in a Mongolian Population

  • Chen, Guang-Lie;Hou, Gai-Ling;Sun, Fei;Jiang, Hong-Li;Xue, Jin-Feng;Li, Xiu-Shen;Xu, En-Hui;Gao, Wei-Shi;Cao, Jian-Ping
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권15호
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    • pp.6021-6024
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    • 2014
  • Background: The STK15 gene located on chromosome 20q13.2 encodes a centrosome-associated kinase critical for regulated chromosome segregation and cytokinesis. Recent studies have demonstrated STK15 to be significantly associated with many tumors, with aberrant expression obseved in many human malignancies. The purpose of this study was to investigate expression of STK15 in esophageal squamous cell carcinomas (ESCCs) in a Mongolian population. Methods: Two non-synonymous single nucleotide polymorphisms in the coding region of STK15, rs2273535 (Phe31Ile) and rs1047972 (Val57Ile) were assessed in 380 ESCC patients and 380 healthy controls. We also detected STK15 mRNA expression in 39 esophageal squamous cell carcinomas and corresponding adjacent tissues by real time PCR. Results: rs2273535 showed a significant association with ESCC in our Mongolian population (rs227353, P allele = 0.0447, OR (95%CI) = 1.259 (1.005~1.578)). Real time PCR analysis of ESCC tissues showed that expression of STK15 mRNA in cancer tissues was higher than in normal tissues (p = 0.013). Conclusions: Our study showed that functional SNPs in the STK15 gene are associated with ESCC in a Mongolian population and up-regulation of STK15 mRNAoccurs in ESCC tumors compared adjacent normal tissues. STK15 may thus have an important role in the prognosis of ESCC and be a potential therapeutic target.

Clinical characteristics and mortality risk factors among trauma patients by age groups at a single center in Korea over 7 years: a retrospective study

  • Jonghee Han;Su Young Yoon;Junepill Seok;Jin Young Lee;Jin Suk Lee;Jin Bong Ye;Younghoon Sul;Seheon Kim;Hong Rye Kim
    • Journal of Trauma and Injury
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    • 제36권4호
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    • pp.329-336
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    • 2023
  • Purpose: In this study, we aimed to compare the characteristics of patients with trauma by age group in a single center in Korea to identify the clinical characteristics and analyze the risk factors affecting mortality. Methods: Patients aged ≥18 years who visited the Chungbuk National University Hospital Regional Trauma Center between January 2016 and December 2022 were included. The accident mechanism, severity of the injury, and outcomes were compared by classifying the patients into group A (18-64 years), group B (65-79 years), and group C (≥80 years). In addition, logistic regression analysis was performed to identify factors affecting death. Results: The most common injury mechanism was traffic accidents in group A (40.9%) and slipping in group B (37.0%) and group C (56.2%). Although group A had the highest intensive care unit admission rate (38.0%), group C had the highest mortality rate (9.5%). In the regression analysis, 3 to 8 points on the Glasgow Coma Scale had the highest odds ratio for mortality, and red blood cell transfusion within 24 hours, intensive care unit admission, age, and Injury Severity Score were the predictors of death. Conclusions: For patients with trauma, the mechanism, injured body region, and severity of injury differed among the age groups. The high mortality rate of elderly patients suggests the need for different treatment approaches for trauma patients according to age. Identifying factors affecting clinical patterns and mortality according to age groups can help improve the prognosis of trauma patients in the future.

Chemoradiotherapy in squamous cell carcinoma of the anal canal: a single institution experience

  • Kim, Kyung Hwan;Chang, Jee Suk;Keum, Ki Chang;Ahn, Joong Bae;Lee, Chang Geol;Koom, Woong Sub
    • Radiation Oncology Journal
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    • 제31권1호
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    • pp.25-33
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    • 2013
  • Purpose: We reviewed the treatment outcomes and prognostic factors for patients with anal canal carcinoma who were treated with curative intent chemoradiotherapy (CRT) at Severance Hospital from 2005 to 2011. Materials and Methods: Data for 38 eligible patients treated during this period were reviewed. All patients were treated with curative intent using radiotherapy (RT) with (n = 35) or without concomitant chemotherapy (n = 3). Among 35 patients who received CRT, most of the chemotherapeutic regimens were either 5-fluorouracil (5-FU) plus mitomycin C (23 patients) or 5-FU plus cisplatin (10 patients). Recurrence-free survival (RFS), colostomy-free survival (CFS), overall survival (OS), and locoregional control (LRC) rates were calculated using the Kaplan-Meier method and survival between subgroups were compared using the log-rank test. Cox's proportional hazard model was used for multivariate analysis. Results: Over a median follow-up period of 44 months (range, 11 to 96 months), 3-year RFS, CFS, OS, and LRC were 80%, 79%, 85%, and 92%, respectively. In multivariate analysis, tumor size >4 cm was an independent predicting factor for poorer RFS (hazard ratio [HR], 6.35; 95% confidence interval [CI], 1.42 to 28.5; p = 0.006) and CFS (HR, 6.25; 95% CI, 1.39-28.0; p = 0.017), while the presence of external iliac lymph node metastasis was an independent prognosticator for poorer OS (HR, 9.32; 95% CI, 1.24 to 70.3; p = 0.030). No treatment-related colostomies or deaths occurred during or after treatment. Conclusion: Curative intent CRT resulted in excellent outcomes that were comparable to outcomes in previous randomized trials. No severe treatment-related toxicities were observed.

Outcome of allogeneic hematopoietic stem cell transplantation for childhood acute lymphoblastic leukemia in second complete remission: a single institution study

  • Lee, Eun-Jung;Han, Ji-Yoon;Lee, Jae-Wook;Jang, Pil-Sang;Chung, Nack-Gyun;Jeong, Dae-Chul;Cho, Bin;Kim, Hack-Ki
    • Clinical and Experimental Pediatrics
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    • 제55권3호
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    • pp.100-106
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    • 2012
  • Purpose: The survival rate for childhood acute lymphoblastic leukemia (ALL) has improved significantly. However, overall prognosis for the 20 to 25% of patients who relapse is poor, and allogeneic hematopoietic stem cell transplantation (HSCT) offers the best chance for cure. In this study, we identified significant prognostic variables by analyzing the outcomes of allogeneic HSCT in ALL patients in second complete remission (CR). Methods: Fifty-three ALL patients (42 men, 79%) who received HSCT in second CR from August 1991 to February 2009 were included (26 sibling donor HSCTs, 49%; 42 bone marrow transplantations, 79%). Study endpoints included cumulative incidence of acute and chronic graft-versus-host disease (GVHD), relapse, 1-year transplant-related mortality (TRM), disease-free survival (DFS), and overall survival (OS). Results: Cumulative incidences of acute GVHD (grade 2 or above) and chronic GVHD were 45.3% and 28.5%, respectively. The estimated 5-year DFS and OS for the cohort was $45.2{\pm}6.8%$ and $48.3{\pm}7%$, respectively. Only donor type, i.e., sibling versus unrelated, showed significant correlation with DFS in multivariate analysis ($p$=0.010). The rates of relapse and 1 year TRM were $28.9{\pm}6.4%$ and $26.4{\pm}6.1%$, respectively, and unrelated donor HSCT ($p$=0.002) and HLA mismatch ($p$=0.022) were significantly correlated with increased TRM in univariate analysis. Conclusion: In this single institution study spanning more than 17 years, sibling donor HSCT was the only factor predicting a favorable result in multivariate analysis, possibly due to increased TRM resulting from unrelated donor HSCT.

Crocetin Induces Cytotoxicity in Colon Cancer Cells Via p53-independent Mechanisms

  • Li, Cai-Yan;Huang, Wen-Feng;Wang, Qun-Li;Wang, Fan;Cai, E.;Hu, Bing;Du, Jia-Cheng;Wang, Jing;Chen, Rong;Cai, Xiao-Jing;Feng, Jing;Li, Hui-Hui
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권8호
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    • pp.3757-3761
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    • 2012
  • Objective: Crocin has been proposed as a promising candidate for cancer chemoprevention. The purpose of this investigation was to investigate the chemopreventive action and the possible mechanisms of crocin against human colon cancer cells in vitro. Methods: Cell proliferation was examined using MTT assay and the cell cycle distribution fractions were analyzed using fow cytometric analysis after propidium iodide staining. Apoptosis was detected using theTUNEL Apoptosis Detection Kit with laser scanning confocal microscope. DNA damage was assessed using the alkaline single-cell gel electrophoresis assay, while expression levels of p53, cdk2, cyclinA and P21 were examined by Western blot analysis. Results: Treatment of SW480 cells with crocetin (0.2, 0.4, 0.8 mmol/L) for 48 h signifcantly inhibited their proliferation in a concentration-dependent manner. Crocetin (0.8 mmol/L) signifcantly induced cell cycle arrest through p53-independent mechanisms accompanied by P21 induction. Crocetin (0.8 mmol/L) caused cytotoxicity in the SW480 cells by enhancing apoptosis and decreasing DNA repair capacity in a time-dependent manner. Conclusions: This report provides evidence that crocetin is a potential anticancer agent, which may be used as a chemotherapeutic drug.