Online ISSN: 2515-8260

Keywords : Allele

Study Of Single Nucleotide Polymorphism Of Tumour Necrosis Factor Alpha (Tnf-Α) And Its Expression In Chronic Pancreatitis Patients Of Kashmir Valley

Khalid Basheer, Arshid Iqbal Qadri, Gowhar Aziz Bhat, Omar J. Shah .

European Journal of Molecular & Clinical Medicine, 2023, Volume 10, Issue 1, Pages 5013-5022

Background: Tumor necrosis factor-alpha (TNF-α) is a key proinflammatory cytokine implicated in the development of chronic pancreatitis (CP). Several researchers have looked at the link between the TNF-α-308 polymorphism and CP, however the findings are still controversial. Hence the present study was undertaken to assess the single nucleotide polymorphisms with the expression of TNF-α in CP patients.
Materials and Methods: In this prospective study, a total of 54 radiologically confirmed, CP patients and 101 healthy controls were studied for polymorphic analysis of TNF-α in the Department of Surgical Gastroenterology SKIMS over a period of two years from April 2014 to April 2016.
Results: The mean age of patients was 35 years with female predominance (55.56%). Majority (50) of patients was having tropical pancreatitis and only 4 had history of alcohol intake. There was no statistically significant relationship between frequencies of mutant TNF-α (308) A allele and the risk of CP in our population. No clinical variable showed significant association with TNF-α (-308) AA genotype. TNF-α expression in serum was significantly more in CP patients (82.035±16.97) than in healthy controls (22.382±63.676), (p<0.0001). We couldn’t find any association with TNF-α expression and clinical variables like age, sex, smoking, alcohol, and diabetes. Also, there was no significant association of TNF α expression in relation to genotype as well.
Conclusion: In conclusion, the current study focuses on the significance of TNF-α levels in CP and identifies it as one of the indicators in the disease's genesis.

Analysis of the role 1G / 2G polymorphism Analysis of the role 1G / 2G polymorphism in the MMP1 gene development and clinical course of cervical intraepithelial neoplasia

I.A. Kamilova; J.E. Pakhomova; D.K. Nadjmutdinova

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 2, Pages 850-859

In the present work, the frequency of occurrence of polymorphic variants 1607 1G / 2G (rs 1799750) of the MMP1 gene encoding enzymes of collagen metabolism and its genotypes in patients with cervical intraepithelial neoplasia and healthy women in Tashkent was first investigated. A statistically significant association of 2G allele carriage with a risk of developing CIN (χ² = 15.4; P≤0.001) and unreliable with carriage of the heterozygous genotype 1G / 2G (χ² = 1.36; P≥0.243) were established. In the control group of patients, a statistically significant predominance of the 1G allele (χ² = 29.4; P≤0.001) and the homozygous genotype 1G / 1G (χ² = 19.6; P≤0.001) was found. The highest values of the carriage of the 2G allele and homozygous genotype 2G / 2G were found at CIN and at CIN ΙΙΙ. Thus, the study of polymorphism rs 1799750 of the MMP1 gene is promising for predicting the course of cervical intraepithelial neoplasia and can be used to form risk groups for the development of this pathology.
The frequency distribution of alleles and genotypes of the polymorphic marker rs1799750 of the MMP1 gene in patients with CIN did not correspond to the canonical Hardy-Weinberg distribution due to an increase in the frequencies of homozygous genotypes and a decrease in the frequency of the heterozygous genotype; in the control group, the frequency distribution of alleles and genotypes of the polymorphic marker rs 1799750 of the MMP1 gene corresponded to the canonical Hardy-Weinberg distribution.