scholarly journals Polymorphism of MUC1 gene in Vietnamese gastric cancer patients: a case-control study

2019 ◽  
Author(s):  
Lan Thi Ngoc Nguyen ◽  
Dzung Thi Ngoc Dang ◽  
Van Thanh Ta ◽  
Huy Quang Dang ◽  
Chuc Van Tran ◽  
...  

Abstract Background Gastric cancer is a malignant type of cancer associated with many factors such as environment, behavior, infection, and genetics, which include Single Nucleotide Polymorphism. A few studies revealed polymorphisms of the Mucin 1 gene have a role and significance as a susceptible factor contributing to gastric cancer. The aim of this research is to evaluate the association between Single Nucleotide Polymorphisms of the Mucin 1 gene and Vietnamese gastric cancer patients.Methods 302 gastric cancer patients and 304 controls were interviewed for social-economic characteristics, smoking and drinking status, personal and family history of gastric diseases. Genotyping was done using polymerase chain reaction-restriction fragment length polymorphism analysis. The association of Single Nucleotide Polymorphisms with gastric cancer was evaluated using multifactor regression models.Results AA genotype for rs4072037 was found to be highly associated with gastric cancer (OR: 2.07 (95% CI: 1.46-2.90). GG genotype for rs2070803 increased the risk of gastric cancer (OR:1.96 (95% CI: 1.37-2.78). These genotypes in combination with other factors such as old age, male gender, alcoholism and personal history of gastric disease also showed an increased risk of having gastric cancer.Conclusions rs4072037 and rs2070803 of Mucin 1 genes are two genotypic risk factors of gastric cancer. Those in combination with other factors such as gender, family history, smoking and drinking habits significantly increase the risk of gastric cancer.

Open Medicine ◽  
2015 ◽  
Vol 10 (1) ◽  
Author(s):  
Yijin Lin ◽  
Jintao Yuan ◽  
Lihui Wang ◽  
Lan Wang ◽  
Yunjia Ma ◽  
...  

AbstractBackground. Many recent studies revealed that the single nucleotide polymorphisms have considerable effects on the susceptibility of cancer, such as prostate cancer, lung cancer and gastric cancer. The E-cadherin, a calcium-dependent transmembrane glycoprotein encoded by CDH1 gene, is critical for epithelial construction, intercellular adhesion and cell migration. Some associations have been reported between single nucleotide polymorphisms and gastric cancer in the Chinese population. Objective. To investigate whether the single nucleotide polymorphism in CDH1 gene is associated with the susceptibility of gastric cancer in the Chinese population. Material and methods. The genotypes of 5 known single nucleotide polymorphisms (rs33935154, rs121964871, rs121964874, rs121964875, rs121964876) were determined in 359 gastric cancer patients and 368 healthy controls. High resolution melting curve detection and sequencing analysis were used in the present study. Results. There is a statistical significance in the rs121964871 C>G polymorphism between gastric cancer patients and healthy controls (OR=1.769, 95%CI: 1.051-2.976). Elderly male individuals (>50 years of age) carrying this risk factor may be more susceptible to gastric cancer. Conclusions. The results indicated that the rs121964871 C>G polymorphism is associated with the susceptibility of gastric cancer in the Chinese population, with some age and sex-dependent tendencies observed.


Health ◽  
2017 ◽  
Vol 09 (01) ◽  
pp. 25-37
Author(s):  
Tamara Figueiredo ◽  
Maria Teresa Santos Guedes ◽  
Luís Paulo Souza e Souza ◽  
Antonio Abílio Santa Rosa ◽  
Antônio Carlos Accetta ◽  
...  

2014 ◽  
Author(s):  
Σταυρούλα Ηλία

Background: Acute otitis media (AOM) is the most common childhood infection, and despite the lower prevalence in neonates and early infancy, serious complications can occur. Pathogenesis is multi-factorial and little is known on the immature host responses to pathogens during otitis media. Extensive studies on the complex cytokine network and its genetically determined regulation have highlighted the significance as determinants of susceptibility and outcome of AOM.Objective: In the current study we investigated the genetic predisposition of the immune host’s response as related to susceptibility, severity and outcome of AOM in early infancy. For this purpose we have chosen 8 single nucleotide polymorphisms (SNPs) of pro-inflammatory and anti-inflammatory cytokines: IL6 (-174 G→C), IL10 (-1082 G→A, -819 C→T, -592 C→A), TNFα (-308 G→A), INFγ (+874 A→T), TGFβ1 (codon 10 C→T, codon 25 G→C).Methods: Neonates and infants with AOM hospitalized in pediatric units of University Hospital and Venizeleion General Hospital, both in Heraklion, Crete, during 2005-2006 were included and followed-up for three consecutive years. Demographics, history, clinical manifestations, and relapses were recorded. Cytokine single nucleotide polymorphisms were determined by the polymerase chain reaction method. We studied predisposing clinical factors affecting severity and chronicity of the disease, as well as cytokine genotypes as related to susceptibility, clinical course and outcome of AOM. Gender, patient’s atopy, exposure to smoke, siblings, breast feeding, and family history of AOM or atopy were considered as potential covariates in the epidemiological analysis. Results: 96 infants were analyzed, 58 (60.4%) were boys, mean age at enrolment was 2.4 months (range 0.6-7.92), and 52 (54%) were younger than 3 months. At the end of follow-up period, 81 (84.4%) infants presented with recurrent AOM episodes. Gastro-esophageal regurgitation, patient’s atopy and positive family history of AOM were related to increased recurrence rates (p=0.01, p=0.01, and p=0.02 respectively). IL10 (-1082) A and TGFβ1 (codon 10) T minor alleles were related to older age of AOM onset than the wild-type genotypes (p=0.007 and p=0.0039 respectively). As compared to wild genotypes, IL10 (-592 C→A, -819 C→T, -1082 G→A) θαη TGFβ1 (codon 10 C→T) genotypes carrying the alternative gene were related to more AOM episodes (p<0.0001, p<0.0001, p<0.0001, and p=0.002, respectively) and need for tympanostomy tubes (p=0.021, p=0.021, p=0.036, and p=0.049, respectively). The associations remained significant for AOM onset and recurrence after adjusting for confounding factors (multiple regression analysis).Conclusions: Our findings suggest that anti-inflammatory cytokine IL10 and TGFβ1 genotypes influence AOM onset, number of recurrent episodes and tympanostomy tube placement. This evidence expands our understanding toward pathogenesis and outlines the anti-inflammatory cytokine implication in the middle ear inflammation. Immunomodulation of host gene expression and modification of certain polymorphisms could possibly play a significant role in susceptibility and outcome of AOM. Identification of genetically susceptible infants will allow for individualized treatment and prevention strategies.


2010 ◽  
Vol 9 (6) ◽  
pp. 321-326 ◽  
Author(s):  
Binbin Wang ◽  
Zhijuan Li ◽  
Caigang Liu ◽  
Huimian Xu ◽  
Feng Jin ◽  
...  

Doctor Ru ◽  
2021 ◽  
Vol 20 (8) ◽  
pp. 7-11
Author(s):  
M.V. Kuznetsova ◽  
◽  
K.A. Svirepova ◽  
N.S. Sogoyan ◽  
A.I. Nikiforova ◽  
...  

Study Objective: To assess the efficacy of methods for DNA gene typing (direct sequencing and two variants of real-time PCR) for routine analysis of large groups; to compare the prevalence of genotypes of three single nucleotide polymorphisms in groups of women with uterine leiomyoma (with a separate analysis of a group with a family history of the disease) and in controls. Study Design: comparative study. Materials and Methods. Subjects were divided into groups using the case-control principle. DNA gene typing results for two groups of patients were analysed. Also, we analysed prevalence of genotypes in study group (patients with uterine leiomyoma) and in controls (patients without a history of uterine leiomyoma and a family history of the disease). The primary method used for genotyping was direct sequencing with genotype imaging. On the second stage, we tested two different PCR-based genotyping methods. Study Results. Patients with uterine leiomyoma were subject to genotyping using three single nucleotide polymorphisms (rs3020434, rs124577644, rs12637801) in ESR1, FBN2, and KCWMB2 introns. We have identified significant differences in prevalence of genotypes between the study group and controls. Polymorphism prevalence is statistically different between patients with leiomyomas, controls and women with a family history of the disease. It is demonstrated that the use of the two variants of real-time PCR testing instead of direct sequencing speeds up results; these methods are a less expensive and less labour-intensive tool for genotyping of single nucleotide polymorphisms in large groups. Conclusion. Real-time PCR testing can be used for express and efficient analysis of single nucleotide polymorphisms associated with uterine leiomyoma. Both methods (PCR genotyping with the use of oligonucleotide probes and analysis of high-resolution melting profiles) tested in this paper make it possible to get unambiguous results in 97–99% of samples. Keywords: uterine leiomyoma, single nucleotide polymorphisms, family proneness.


2007 ◽  
Vol 10 (3) ◽  
pp. 173-175 ◽  
Author(s):  
Kentaro Kawasaki ◽  
Kiyonori Kanemitsu ◽  
Takashi Yasuda ◽  
Takashi Kamigaki ◽  
Daisuke Kuroda ◽  
...  

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