E-Cadherin and Metalloproteinase-1 and -7 Polymorphisms in Colorectal Cancer

2009 ◽  
Vol 24 (2) ◽  
pp. 99-106 ◽  
Author(s):  
Jacqueline Miranda de Lima ◽  
Lessileia Gomes de Souza ◽  
Ismael Dale Cotrim Guerreiro da Silva ◽  
Nora Manoukian Forones
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Metastatic Disease ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
History Of ◽  
Polymerase Chain ◽  
Marginal Risk ◽  
E Cadherin

Purpose E-cadherin (CDH1) and metalloproteinase (MMP) polymorphisms could play a crucial role in cancer invasion. Our aim was to investigate the influence of the -160C/A CDH1, -1607ins/delG MMP-1 and -181A/G MMP-7 polymorphisms on the frequency and progression of colorectal cancer (CRC). Experimental design A total of 130 patients with CRC and 130 noncancer controls were studied. The -160C/A CDH1, -1607ins/delG MMP-1 and -181A/G MMP-7 genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism. Results Patients with the 1G allele and a family history of CRC showed a six times higher risk of developing CRC (OR: 6.45, 95%CI: 2.02–20.6, p=0.001). The A/A CDH1 genotype was associated with a higher risk of metastatic disease (OR: 3.43, 95%CI: 1.27–9.27, p=0.023). A higher marginal risk of metastatic disease was observed for MMP-1 genotypes 1G/1G and 1G/2G (OR: 2.97, 95%CI: 0.93–9.47, p=0.098). Conclusions The -160C/A CDH1, -1607ins/delG MMP-1 and -181A/G MMP-7 single nucleotide polymorphisms did not modify the risk of CRC development. Patients with the 1G/1G or 1G/2G genotype and a family history of CRC presented a higher risk of CRC. The AA CDH1 and 1G/1G and 1G/2G MMP-1 genotypes might be associated with advanced metastatic disease, but are not markers of lymphatic metastasis.

scholarly journals CD24 GENE POLYMORPHISMS IN EGYPTIAN PATIENTS WITH COLORECTAL CANCER

2021 ◽  
Vol 9 (10) ◽  
pp. 337-348
Author(s):  
Eman Saber Elhennawy ◽  
Abeer Mesbah Abd-El Hamid ◽  
Tharwat Saad Kandil ◽  
Mohammed Mohammed El-Sayed El-Arman ◽  
Rasha Elzehery
Keyword(s):  
Colorectal Cancer ◽  
Fragment Length Polymorphism ◽  
Multivariate Logistic Regression Analysis ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Egyptian Patients ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Apparently Healthy

Introduction: Early detection of colorectal cancer (CRC) is the key to reduce its related morbidity and mortality. Methods: One hundred CRC patients were included in this study, they were admitted at Mansoura Gastroenterology Center, Mansoura University and diagnosis was confirmed by pathology.100 apparently healthy individuals were served as the control group.CD24 (P170 C/T) and CD24 (P-534 A/C) single nucleotide polymorphisms (SNPs) were analyzed using polymerase chain reaction–restriction fragment length polymorphism (PCR/RFLP). Results: Regarding CD24 P170 C/T SNP, no statistically significant association was found between genotypes, alleles and risk of CRC. While, P-534 A/C; AC, CC, AC+CC genotypes and C allele showed significantly higher frequency in cases when compared to controls. CC and TC haplotypes were significantly associated with risk of CRC when compared to control group. Multivariate logistic regression analysis revealed that higher CEA and P-534 A/C (AC+CC) were considered as independent predictors of higher CRC stages. Conclusion: The current study observed an association between CD24 P-543 A/C SNP and the risk of developing CRC in Egyptian subjects.

An association of the MCP-1 and CCR2 single nucleotide polymorphisms with colorectal cancer prevalence

2017 ◽  
Vol 89 (5) ◽  
pp. 1-5 ◽  
Author(s):  
Anna Walczak ◽  
Karolina Przybyłowska-Sygut ◽  
Andrzej Sygut ◽  
Adrianna Cieślak ◽  
Michał Mik ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cancer Prevalence ◽  
Pcr Rflp ◽  
Study Support ◽  
Polymorphic Variants ◽  
Polymerase Chain

The aim of the study: We evaluated the connection between the presence of the -2518 A/G MCP-1 as well as 190 G/A CCR2 polymorphic variants and colorectal cancer (CRC) occurrence. Material and methods: Study group consisted of subjects with different stages of CRC as well as healthy controls. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: W observed an association between the colorectal cancer and the GG genotype of the -2518 A/G MCP-1 single nucleotide polymorphism. No statistically significant correlation was found between CRC and the 190 G/A CCR2 polymorphism. Conclusion: The results of this study support the hypothesis that polymorphism in the MCP-1 gene may contribute to the etiology of colorectal cancer.

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

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.

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 ◽  
...  
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.

scholarly journals Novel Associations Between Brca1 Variants C.181 T>G (Rs28897672) and Ovarian Cancer Risk in Saudi Females

2019 ◽  
Vol 38 (1) ◽  
pp. 13-21 ◽  
Author(s):  
Nora Alyahri ◽  
Saba Abdi ◽  
Wajahatullah Khan ◽  
Mohamed Elrobh ◽  
Mohammed H. Addar ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Brca1 Gene ◽  
P Value ◽  
Ovarian Cancer Risk ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
High Risk Women ◽  
History Of ◽  
Polymerase Chain ◽  
Cancer Tissues

Summary Background: Mutations in BRCA1 gene have been implicated in ovarian cancers, and BRCA testing may be conducted in high-risk women. This study was designed to determine the frequency of three single nucleotide polymorphisms (SNPs) variants in BRCA1 gene and BRCA1 expression in Saudi females with ovarian cancer. Methods: Expression levels of mRNA of BRCA1 gene were studied in 10 ovarian cancer and 10 normal ovarian tissues, by quantitative real time polymerase chain reaction (qPCR). The study also included 28 females who had suffered from ovarian cancer and had been successfully operated upon and 90 healthy females with no history of cancer. Blood was drawn in EDTA tubes and used for extraction of DNA. The genotyping was carried out using Taqman® SNP Genotyping kit by RT-PCR. The variants investigated included c.871 T>C (rs799917), c.1040 G>A (rs4986852), c.181 T>G (rs28897672) in BRCA1 gene. Results: The c.181 T>G (rs28897672) showed significantly different genotype and allele frequencies between the patients and the control subjects (p value = 0.002 and 0.02, respectively). The genotype TG was significantly protective (OR = 0.36, p value = 0.024). The mRNA expression of BRCA1 gene was found to be low in the ovarian cancer tissues. Conclusions: This study showed that c.181 T>G in BRCA1 genes is associated with the development of ovarian cancer in Saudis. More studies are needed to unveil other SNPs that may be associated with ovarian cancer and to understand the mechanism(s) involved in reducing the expression of BRCA1 gene in ovarian cancer tissues.

Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants

2021 ◽  
pp. 088307382110150
Author(s):  
José Tascón-Arcila ◽  
Sara Rojas-Jiménez ◽  
Diana Cornejo-Sánchez ◽  
Paola Gómez-Builes ◽  
Andrea Ucroz-Benavides ◽  
...  
Keyword(s):  
Family History ◽  
Clinical Features ◽  
Age At Onset ◽  
Febrile Seizures ◽  
Structured Interview ◽  
Nucleotide Polymorphisms ◽  
Rolandic Epilepsy ◽  
Single Nucleotide ◽  
Hyperactivity Disorder ◽  
History Of

Purpose: Our purpose was to describe the phenotypic features and test for association of genes GRIN2A, RBFOX1 and RBFOX3 with rolandic epilepsy in patients from Colombia. Methods: Thirty patients were enrolled. A structured interview was applied. In addition, saliva samples were collected from the patients and their parents. One polymorphism in each of GRIN2A, RBFOX1 and RBFOX3 genes was tested. Results: The average age at onset was 5.3 years. Almost half the sample presented prolonged seizures (>5 minutes); although the majority of the patients presented their seizures only while asleep, over a quarter presented them only while awake. The most frequent comorbidity was the presence of symptoms compatible with attention-deficit hyperactivity disorder (ADHD). Personal history of febrile seizures and parasomnias were equally frequent (20%). Family history of any type of epilepsy was reported in 80% of the patients, followed by migraine (73.3%) and poor academic performance (63.3%). About half the sample reported sleepwalking in parents or sibs. Most patients had received pharmacologic treatment. We found no association of rolandic epilepsy with the single nucleotide polymorphisms tested. Conclusions: Our rolandic epilepsy cohort presents clinical features clearly different from other cohorts. For instance, age at onset is much earlier in our set of patients, and personal and family history of febrile seizures as well as parasomnias are highly prevalent in our sample. No association of rolandic epilepsy with variants at the 3 genes tested was found. This lack of association may reflect the high genetic heterogeneity of the epilepsies.

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

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.

scholarly journals The Relationship Between the PPARδ-87T>C Polymorphism and Colorectal Cancer Risk in a Chinese Han Population

2020 ◽  
Author(s):  
ZongGuang Zhou ◽  
Bo Dong ◽  
Lie Yang ◽  
Bin Zhou ◽  
Dan Zhang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Fragment Length Polymorphism ◽  
Clinicopathological Parameters ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Pcr Rflp ◽  
Polymerase Chain

Abstract BackgroundPeroxisome proliferator-activated receptor-β/δ (PPARβ/δ) is a transcription factor that has the potential to be associated with the development of colorectal cancer (CRC). However, the exact role of PPARδ in the context of CRC development remains to be clarified. This present study was thus designed to understand the association between CRC risk and the PPARδ-87T>C single nucleotide polymorphism (SNP) in a western Chinese Han population. MethodsThe PPARδ-87T>C (rs2016520) polymorphism was analyzed via the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach in 410 CRC patients and 496 frequency-matched healthy controls via a case-control study design. Relationships between PPARδ-87T>C polymorphisms and clinicopathological parameters were assessed using Pearson chi-squared tests or Fisher's exact test, Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the association between the PPARδ-87T>C SNP and CRC risk. ResultsWe observed significant differences in genotypic frequencies when comparing CRC patients (TT 62%, TC 32%, and CC 6.1%) and controls (TT 65.5%, TC 32,3%, and CC 22%). In addition, PPARδ-87T>C genotype was associated with tumor differentiation (P=0.033), but was unrelated to clinicopathological parameters in CRC patients. An unconditioned logistic regression model analysis revealed that individuals harboring the homozygous CC genotype exhibited an elevated CRC risk relative to those harboring the TT genotype (OR=2.931,95% CI =1.41- 6.08; P=0.004).ConclusionsOur findings indicate that the homozygous PPARδ-87T>C CC genotype is associated with an elevated CRC risk as compared to the homozygous TT genotype, indicating that PPARδ-87T>C polymorphisms have the potential to serve as a marker for CRC risk. Keywords PPARδ, Colorectal cancer (CRC), Single nucleotide polymorphism (SNP), Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)

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

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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