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Association of intron and exon polymorphisms of p53 gene in Iranian patients with gastritis.

ABSTRACT: AIM:The propose of this study was to evaluate the probable correlation between exon and intron polymorphisms of p53 gene and their association with clinicopathological aspects of gastritis. BACKGROUND:Regarding to the decisive role of p53 in the development of a variety of human cancers, a comprehensive study concerning probable correlation between polymorphisms in the p53 intron and exon in gastritis lesions, may open new insight toward gastric cancer development and prevention. PATIENTS AND METHODS:PCR-Sequencing was done for exons and introns 2-7 on the 97 gastritis and normal samples, age range of 15-83 years. Also, microsatellite status was evaluated using five mono nucleotide repeat markers. Variation at codon 72 was associated with IVS2 + 38, p53INS3 and IVS3-29. In addition, IVS2 + 38 had association with polymorphism at codon 36 & 245. Gastritis samples had stable microsatellite except nine patients showing polymorphism for NR-21 and one for Bat-25. RESULTS:Most of patients with stable microsatellites (83.9%) had allele G at codon72 without p53INS3. In addition, all patients with GA and CG at codon 36 / IVS2 + 38 had stable microsatellites. Severity and activity of gastritis were in association with genotypes combined of codon 36/IVS2 + 38 and 245/IVS2 + 38 respectively. In addition, the profiles of combined variation at codon 72/IVS3-29 and codon 72/IVS6 + 31 were different between patients with ages less and greater than 45 years. CONCLUSION:As, some exon variations of p53 gene specially codon 72, were in association with alterations at introns and their combined genotypes were correlated with microsatellite status, pathological findings and age, therefore, it could be inferred that the these combinations of p53 gene polymorphisms work as a whole, not as single.

SUBMITTER: Najjar Sadeghi R

PROVIDER: S-EPMC4017528 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Association of intron and exon polymorphisms of p53 gene in Iranian patients with gastritis.

Najjar Sadeghi Rouhallah R Sahba Negar N Vahedi Mohsen M Reza Mohebbi Seyed S Reza Zali Mohammad M

Gastroenterology and hepatology from bed to bench 20130101 Suppl 1

<h4>Aim</h4>The propose of this study was to evaluate the probable correlation between exon and intron polymorphisms of p53 gene and their association with clinicopathological aspects of gastritis.<h4>Background</h4>Regarding to the decisive role of p53 in the development of a variety of human cancers, a comprehensive study concerning probable correlation between polymorphisms in the p53 intron and exon in gastritis lesions, may open new insight toward gastric cancer development and prevention.< ...[more]

PMID: 24834287

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Project description:Polymorphisms of NER genes could change NER ability, thereby altering individual susceptibility to GC. We systematically analyzed 39 SNPs of 8 key genes of NER pathway in 2686 subjects including 898 gastric cancer (GC), 851 atrophic gastritis (AG) and 937 controls (CON) in northern Chinese. SNP genotyping were performed using Sequenom MassARRAY platform. The results demonstrated that DDB2 rs830083 GG genotype was significantly associated with increased GC risk compared with wild-type CC (OR=2.32, P= 6.62 × 10-9); XPC rs2607775 CG genotype conferred a 1.73 increased odds of GC risk than non-cancer subjects compared with wild-type CC (OR=1.73, P= 3.04 × 10-4). The combined detection of these two polymorphisms demonstrated even higher GC risk (OR=3.05). Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12). XPC rs1870134-rs2228000-rs2228001-rs2470352-rs2607775 GCAAG haplotype conferred increased risk of GC compared with AG (OR=1.88, P= 6.98 × 10-4). XPA rs2808668 and drinking, DDB2 rs326222, rs3781619, rs830083 and smoking demonstrated significant interactions in AG; XPC rs2607775 had significant interaction with smoking in GC. In conclusion, NER pathway polymorphisms especially in "damage incision" step were significantly associated with GC risk and had interactions with environment factors. The detection of NER pathway polymorphisms such as DDB2 and XPC might be applied in the prediction of GC risk and personalized prevention in the future. NER pathway polymorphisms especially in "damage incision" step were significantly associated with GC risk and had interactions with environment factors, which might be applied in the prediction of GC risk and personalized prevention in the future.

Project description:BackgroundTumor necrosis factor-alpha (TNF-α) is an important cytokine in acute inflammatory response to infective factors. Based on investigation in different populations, it is thought that this response increases in patients with endometriosis due to the presence of cytokines such as TNF-α. This study aimed to examine the association of four TNF-α polymorphisms, namely -238G/A, -308G/A, -857C/T and -863C/A, with susceptibility to endometriosis in an Iranian population.Materials and methodsWe recruited 150 women with endometriosis and 150 women without endometriosis in this case-control study and collected 4 ml of blood from all subjects. After DNA extraction, the polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).ResultsThe allele frequency of TNF-α -863C/A in the case and control groups showed a significant difference [odds ratios (OR)=0.64, 95% confidence interval (CI)=0.41-0.99, P=0.047] but the result is not significant when Adjusting for multiple testing (P=0.188). No significant difference in the allele frequencies of -238G/A (OR=1.07, 95% CI=0.51-2.25, P=0.862), -308G/A (OR=0.79, 95% CI=0.43-1.45, P=0.438) and -857C/T (OR=1.03, 95% CI=0.66- 1.61, P=0.887) was observed. We adjusted all four polymorphism genotypes by age and body mass index (BMI), however, no significant difference was detected. There was an association between the case and control and BMI when adjusting by age (OR=1.082, 95% CI=1.009-1.162, P=0.028).ConclusionFor the first time the association of the four polymorphisms in the promoter region of the TNF-α gene with endometriosis has been conducted in women of Iranian origin. The present research reveals the -863 A allele may play a role in incidence of endometriosis among Iranian women. Development of endometriosis among those people with -863 A allele seems low. According to the results, the current study indicates that there might be a correlation between BMI and progression of endometriosis.

Dataset Information

Association of intron and exon polymorphisms of p53 gene in Iranian patients with gastritis.

Publications

Association of intron and exon polymorphisms of p53 gene in Iranian patients with gastritis.

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