Association between WNT-1-inducible signaling pathway protein-1 (WISP1) genetic polymorphisms and the risk of gastric cancer in Guangxi Chinese

Abstract Background WNT1-inducible signaling pathway protein 1 (WISP1) is a member of the CCN protein family and a downstream target of β-catenin. Aberrant WISP1 expression may be involved in carcinogenesis. To date, no studies have investigated the association between single-nucleotide polymorphisms (SNPs) of WISP1 and gastric cancer. Therefore, we conducted this study to explore their relationship. Methods Polymerase chain reaction-restriction fragment length polymorphism assay was used to analyze three SNPs of WISP1 in 204 gastric cancer patients and 227 controls. Results Overall, we could not identify a significant association between WISP1 SNPs and gastric cancer risk. However, the subgroup analysis demonstrated that the presence of the rs7843546 T allele was associated with a significantly decreased risk of gastric cancer in those of Han Chinese ethnicity (CT vs. CC: OR = 0.33, 95%CI 0.14–0.78; TT vs. CC: OR = 0.29, 95%CI 0.11–0.76; CT + TT vs. CC: OR = 0.32, 95%CI 0.14–0.74). In addition, patients with the rs7843546 TT genotype display a 0.34-fold lower risk of developing stage I/II gastric cancer than those with the CC genotype Furthermore, individuals ≥ 50 years old who carried the rs10956697 AC genotype had a significantly decreased risk of gastric cancer (OR = 0.58, 95%CI 0.35–0.98). Smokers with the rs10956697 AC and AC + AA genotypes exhibited a 0.28-fold lower and 0.32-fold lower risk of gastric cancer, respectively. Conclusions The WISP1 SNPs rs7843546 and rs10956697 were, for the first time, found to reduce susceptibility to gastric cancer in various subgroups of Guangxi Chinese.

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Polymorphisms in RAS/RAF/MEK/ERK Pathway Are Associated with Gastric Cancer

Genes ◽

10.3390/genes10010020 ◽

2018 ◽

Vol 10 (1) ◽

pp. 20 ◽

Cited By ~ 10

Author(s):

Patricio Gonzalez-Hormazabal ◽

Maher Musleh ◽

Marco Bustamante ◽

Juan Stambuk ◽

Raul Pisano ◽

...

Keyword(s):

Gastric Cancer ◽

Additive Model ◽

P Value ◽

Erk Pathway ◽

Nucleotide Polymorphisms ◽

Functional Effect ◽

Cellular Functions ◽

Single Nucleotide ◽

Gastric Cancer Patients ◽

Control Study

The RAS/RAF/MEK/ERK pathway regulates certain cellular functions, including cell proliferation, differentiation, survival, and apoptosis. Dysregulation of this pathway leads to the occurrence and progression of cancers mainly by somatic mutations. This study aimed to assess if polymorphisms of the RAS/RAF/MEK/ERK pathway are associated with gastric cancer. A case-control study of 242 gastric cancer patients and 242 controls was performed to assess the association of 27 single nucleotide polymorphisms (SNPs) in the RAS/RAF/MEK/ERK pathway genes with gastric cancer. Analyses performed under the additive model (allele) showed four significantly associated SNPs: RAF1 rs3729931 (Odds ratio (OR) = 1.54, 95%, confidence interval (CI): 1.20–1.98, p-value = 7.95 × 10−4), HRAS rs45604736 (OR = 1.60, 95% CI: 1.16–2.22, p-value = 4.68 × 10−3), MAPK1 rs2283792 (OR = 1.45, 95% CI: 1.12–1.87, p-value = 4.91 × 10−3), and MAPK1 rs9610417 (OR = 0.60, 95% CI: 0.42–0.87, p-value = 6.64 × 10−3). Functional annotation suggested that those variants or their proxy variants may have a functional effect. In conclusion, this study suggests that RAF1 rs3729931, HRAS rs45604736, MAPK1 rs2283792, and MAPK1 rs9610417 are associated with gastric cancer.

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A Protocol for Rapid and Inexpensive Genotyping of Mutant Mice from Dried Blood Spots: An Update

10.21203/rs.3.rs-895667/v1 ◽

2021 ◽

Author(s):

Antonella Romano ◽

Candida Zuchegna ◽

Giuseppa Zannini ◽

Roberta Grillo ◽

Samantha Messina ◽

...

Keyword(s):

Dna Extraction ◽

Genomic Dna ◽

Fragment Length Polymorphism ◽

Dna Amplification ◽

Dried Blood Spots ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Pcr Rflp ◽

Polymerase Chain ◽

Sensitivity Specificity

Abstract Background: Dried blood spot (DBS) testing is a well-known method of bio-sampling by which blood samples are blotted and dried on filter paper. The dried samples can then be analyzed by several techniques such as DNA amplification and HPLC. We have developed a homemade DBS method followed by an alternative protocol for genomic DNA extraction from a drop of blood adsorbed on paper support. This protocol consists of two separate steps: (1) organic DNA extraction from the DBS, followed by (2) DNA amplification by polymerase chain reaction (PCR). The PCR-restriction fragment length polymorphism (PCR-RFLP) is an advantageous and simple approach to detect single nucleotide polymorphisms (SNPs). Results: We have evaluated the efficiency of our method for the extraction of genomic DNA from DBS by testing its performance in genotyping mouse models of obesity and herein discuss the sensitivity, specificity and feasibility of this novel procedure. Conclusions: Our protocol is easy to perform, fast and inexpensive and allows the isolation of pure DNA from a miniscule amount of sample.

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

10.21203/rs.2.14183/v1 ◽

2019 ◽

Author(s):

Lan Thi Ngoc Nguyen ◽

Dzung Thi Ngoc Dang ◽

Van Thanh Ta ◽

Huy Quang Dang ◽

Chuc Van Tran ◽

...

Keyword(s):

Gastric Cancer ◽

Family History ◽

Single Nucleotide Polymorphisms ◽

Cancer Patients ◽

Nucleotide Polymorphisms ◽

Mucin 1 ◽

Single Nucleotide ◽

History Of ◽

Gastric Cancer Patients ◽

Multifactor Regression

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.

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TNF-α, IL-4Rα AND IL-4 Polymorphisms in Mild to Severe Asthma from Italian Caucasians

International Journal of Immunopathology and Pharmacology ◽

10.1177/039463201302600107 ◽

2013 ◽

Vol 26 (1) ◽

pp. 75-84 ◽

Cited By ~ 7

Author(s):

F.L.M. Ricciardolo ◽

V. Sorbello ◽

M. Silvestri ◽

M. Giacomelli ◽

V.M.G. Debenedetti ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Protein Coding ◽

Cytokine Genes ◽

Asthmatic Patients ◽

Tnf Α ◽

Snp Mapping ◽

Polymerase Chain ◽

First Time

Asthma is a chronic airway inflammatory disease associated with airway hyperresponsiveness which affects subjects with genetic predisposition. An association has been reported between some polymorphisms in various cytokine genes and asthma. Most of them are single nucleotide polymorphisms (SNPs). These polymorphisms are detected in the protein coding sequence or in the promoter region thus influencing cytokine production. We investigated the involvement of SNP mapping in 5 cytokine genes in mild to severe asthmatics of Italian Caucasians. The frequency of alleles and genotypes, relatively to 10 allelic specificities of the cytokine genes, was defined in 57 asthmatics and in 124 control subjects by a Polymerase Chain Reaction-Sequence Specific Primer method. TNF-α -308A and TNF-α -238A allele frequencies were higher in asthmatics than in controls (p<0.001). Significant differences in the frequency of IL-4 -590T allele and of IL-4Rα + 1902A allele were also detected in asthmatics in comparison with controls (p<0.001 and p=0.005, respectively). Similarly, IL-1α -889C allele was present in 84.1% of asthmatics and in 70.2% of controls (p=0.013). Furthermore, the IL-4Rα + 1902A/A and IL-1α -889C/C homozygous conditions and the TNF-α -308G/A, TNF-α -238G/A, IL-4 -590T/C and IL-10 -1082G/A heterozygous conditions were significantly associated with asthma (p<0.05). ACA haplotype of IL-10 was observed only in asthmatic patients. This study reports, for the first time, the frequency of 10 different single nucleotide polymorphisms in 5 cytokine genes in the Italian Caucasians. Furthermore, we also indicate that in our population some single nucleotide polymorphisms are associated with mild to severe bronchial asthma.

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Association of Interleukin-8 with Cachexia from Patients with Low-Third Gastric Cancer

Comparative and Functional Genomics ◽

10.1155/2009/212345 ◽

2009 ◽

Vol 2009 ◽

pp. 1-6 ◽

Cited By ~ 13

Author(s):

Bo Song ◽

Dianliang Zhang ◽

Shuchun Wang ◽

Hongmei Zheng ◽

Xinxiang Wang

Keyword(s):

Gastric Cancer ◽

Cancer Cachexia ◽

Haplotype Analysis ◽

Positive Association ◽

Serum Levels ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Increased Risk ◽

Pcr Rflp ◽

Polymerase Chain

Background. Interleukin (IL)-8 has been implicated in the development of cancer cachexia. The polymorphism of IL-8 gene, which may affect the production level of IL-8, may be associated with cancer cachexia.Methods. The serum IL-8 level in our study was examined by radioimmunoassay. We also analyzed single nucleotide polymorphisms (SNPs) −251 A/T and +781 C/T of IL-8 gene, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results. The serum levels of IL-8 were significantly elevated in patients with low-third gastric cancer compared with controls, and were further up-regulated in patients with cachexia than those without (Z=−3.134,P=.002). A significantly increased frequency of +781 T allele was noted in patients with cachexia (OR=2.247, 95% CI: 1.351–3.737,P=.002). The +781 TT genotype was observed to be associated with a significantly increased risk of cachexia (OR=3.167, 95% CI: 1.265–7.929,P=.011), and with odds ratio of 3.033 (95% CI: 1.065–8.639,P=.038) for cachexia after adjusting for potential confounding factors. Meanwhile, haplotype analysis indicated a borderline positive association betweenT251T781haplotype and cachexia as compared with theT251C781haplotype (OR=4.92, 95% CI: 1.00–24.28;,P=.053).Conclusions. IL-8 appears to be associated with cachexia from patients with low-third gastric cancer.

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Correlation between SNPs in CDH1 and gastric cancer in Chinese population

Open Medicine ◽

10.1515/med-2015-0007 ◽

2015 ◽

Vol 10 (1) ◽

Author(s):

Yijin Lin ◽

Jintao Yuan ◽

Lihui Wang ◽

Lan Wang ◽

Yunjia Ma ◽

...

Keyword(s):

Gastric Cancer ◽

Single Nucleotide Polymorphisms ◽

Cancer Patients ◽

Chinese Population ◽

Sequencing Analysis ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Cdh1 Gene ◽

Single Nucleotide ◽

Gastric Cancer Patients

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.

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Genetic polymorphisms of Cathepsin B are associated with gastric cancer risk and prognosis in a Chinese population

Cancer Biomarkers ◽

10.3233/cbm-203208 ◽

2021 ◽

pp. 1-10

Author(s):

Xiang Ma ◽

Younan Wang ◽

Hao Fan ◽

Chuming Zhu ◽

Wangwang Chen ◽

...

Keyword(s):

Gastric Cancer ◽

Genetic Polymorphisms ◽

Cathepsin B ◽

Case Control Study ◽

Nucleotide Polymorphisms ◽

Sequencing Technology ◽

Single Nucleotide ◽

Polymerase Chain ◽

Control Study

BACKGROUND: Genetic polymorphisms are believed to represent a key aspect of predisposition to gastric cancer (GC). Therefore, considering the important role of Cathepsin B (CTSB) in promoting cancer onset and development, it could be very worthful to explore the function of CTSB-related genetic polymorphisms in GC. OBJECTIVE: In this study, we investigated the correlation of CTSB-related polymorphisms (rs9009A>T, rs6731T>C, rs1293303G>C, rs1874547C>T, rs3779659C>T, rs17814426C>T and rs148669985C>T) with GC risk and prognosis in a case-control study of 994 cases and 1000 controls. METHODS: All tag single nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction-ligase detection reaction (PCR-LDR) sequencing technology. RESULTS: The results indicated rs9009, rs6731 and rs17814426 correlated with decreased risks of GC (HR = 0.97, p< 0.001; HR = 0.86, P= 0.019; HR = 0.85, P= 0.017; respectively). Stratification analysis further showed rs17814426 variant genotypes correlated with earlier T stage (p= 0.044). In addition, GC patients carrying the C allele of rs6371 had better overall prognosis (HR = 0.62, 95%CI = 0.44–0.88). CONCLUSION: Our results firstly suggested the importance of CTSB-related polymorphisms on GC which could predict GC risk and prognosis.

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Effect of porcine IL-6 polymorphism on litter size traits in commercial pig breeds

Veterinary Integrative Sciences ◽

10.12982/vis.2021.021 ◽

2020 ◽

Vol 19 (2) ◽

pp. 237-246

Keyword(s):

Polymerase Chain Reaction ◽

Litter Size ◽

Fragment Length Polymorphism ◽

Nucleotide Polymorphisms ◽

Chain Reaction ◽

Large White ◽

Single Nucleotide ◽

Pcr Rflp ◽

Polymerase Chain ◽

Restriction Fragment Length

This study aimed to verify the polymorphisms in the porcine IL-6 gene and to elucidate its effects on litter size traits in Large White and Landrace sows. Four single nucleotide polymorphisms (SNPs) of the porcine IL-6 gene (g.91506415A>G, g.91507983A>G, g.91508173C>T, and g.91508716C>T) were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. There was no polymorphism observed on the three SNPs (g.91506415A>G, g.91507983A>G, and g.91508716C>T) of the porcine IL-6 gene. The porcine IL-6 g.91508173C>T polymorphism was found to be segregating in Large White and Landrace sows. The porcine IL-6 g.91508173C>T polymorphism was significantly associated with the total number born (TNB) and the number of piglets weaned alive (NWA) traits in Large White sows (P<0.05). Moreover, the porcine IL-6 g.91508173C>T polymorphism was significantly associated with the TNB, number born alive (NBA), and NWA traits in Landrace sows (P<0.05). These results indicated that the porcine IL-6 g.91508173C>T polymorphism was associated with litter size traits. These findings confirmed the importance of the IL-6 gene as a candidate gene for litter size traits in pigs.

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Application of polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) in the analysis of single nucleotide polymorphisms (SNPs)

Folia Biologica et Oecologica ◽

10.18778/1730-2366.16.14 ◽

2021 ◽

Vol 17 ◽

pp. 48-53

Author(s):

Piotr Tarach

Keyword(s):

Polymerase Chain Reaction ◽

Restriction Fragment Length Polymorphism ◽

Length Polymorphism ◽

Dna Analysis ◽

Fragment Length Polymorphism ◽

Nucleotide Polymorphisms ◽

Chain Reaction ◽

Single Nucleotide ◽

Polymerase Chain ◽

Restriction Fragment Length

Polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) is a technique used to identify single nucleotide polymorphisms (SNPs) based on the recognition of restriction sites by restriction enzymes. RFLP-PCR is an easy-to-perform and inexpensive tool for initial analysis of SNPs potentially associated with some monogenic diseases, as well as in genotyping, genetic mapping, lineage screening, forensics and ancient DNA analysis. The RFLP-PCR method employs four steps: (1) isolation of genetic material and PCR; (2) restriction digestion of amplicons; (3) electrophoresis of digested fragments; and (4) visualisation. Despite its obsolescence and the presence of high-throughput DNA analysis techniques, it is still applied in the analysis of SNPs associated with disease entities and in the analysis of genetic variation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). RFLP-PCR is a low-cost and low-throughput research method allowing for the analysis of SNPs in the absence of specialised equipment, and it is useful when there is a limited budget.

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