Tehran University Medical Journal

Background: lumbar disc degeneration is a multifactorial degenerative disease which is affected by genetic inheritance and environmental factors. Type XI collagen is important for organization of the extracellular matrix and cartilage collagen construction. Rs1676486 is a SNP that causes the conversion of C-T, resulting in a change in the expression of the collagen 11 alpha chain. The T allele reduces the alpha 1 chain transcription of collagen 11 and ultimately leads to an imbalance in gene expression.
Methods: This study aims to determine the genetic variant of alpha1 type11 collagen is associated with the progress of intervertebral disc degeneration. All patients were selected from the AL-Zahra Hospital of medical university of Isfahan, Iran, between April 2016 and September 2017. SNP rs1676486 of alpha1 type11 collagen was genotyped in 100 patients and 100 healthy controls. The inclusion criteria for patients were: individuals who had typical clinical and imaging symptoms and signs of intervertebral disc degeneration. Exclusion criteria were: patients with trauma, metabolic and neuromuscular diseases, and congenital disorder of the spine. The Genomic DNA was extracted from peripheral blood samples by a Whole Blood Genomic DNA Extraction Kit. The chi-square test and fisher’s exact test were evaluated to determine differences of genotype and allele distributions between intervertebral disc degeneration patients and healthy controls. To compare the relationship between genotypes and clinical features the Mann-Whitney U test was used.

Background: Understanding the complex processes of the immune system in dealing with the covid-19 infection, which is probably related to polymorphisms in cytokine and chemokine genes, can explain the pro-inflammatory condition of patients. Accordingly, in the present study, the correlation between the frequency of single nucleotide polymorphisms in the pro-inflammatory IFNAR2 gene and the severity of the disease of COVID-19 was investigated.
Methods: This research was reviewed by the ethics committee of the Pasteur Institute of Iran and was approved by this committee with the ethics code IR.PII.REC.1400.042. and continued from December 2021 to November 2022. This study was conducted on 954 patients with COVID-19, who were divided into two groups: those who recovered and those who died. COVID-19 infection in all 954 volunteers has been confirmed through rtReal Time-PCR of oropharyngeal or nasopharyngeal swabs.After taking blood samples from patients and extracting DNA, IFNAR2 gene was amplified using specific primers. Then RFPL method and Cac8I restriction enzyme were used to investigate rs2236757 polymorphisms in IFNAR2 gene. Genotype of people was determined according to the pattern of formed bands. The results were statistically analyzed using SPSS software.

Results: Calculation of genotypic frequency of rs2236757 polymorphism in IFNAR2 gene showed that in general 21% of cases had AA genotype, 47% GA genotype and 32% GG genotype. The allelic frequency of this polymorphism showed that 56% of cases had G allele and 44% had A allele. In investigating the correlation of rs2236757 polymorphism in IFNAR2 gene with the severity of the disease of Covid-19, the OR value for the GG genotype was equal to 1, which indicates the absence of the role of this polymorphism in the severity of the disease. On the other hand, A allele was significantly more in recovered people than in deceased people, and the value of OR<1 also confirmed this issue. Conclusion: The results showed that rs2236757 in the IFNAR2 gene is related to the reduction of disease severity, which indicates the important role of genes related to inflammatory responses, as well as the role of genetic variants of these genes in the severity of COVID-19.

Background: Lung cancer has the highest incidence and mortality rate of all cancers worldwide. In Iran, it is one of the commonly diagnosed malignancies, and its frequency is increasing rapidly. Genetic variants in DNA repair genes are linked to differences in efficiency of repairing DNA damage, which can influence lung cancer susceptibility. EXO1 is a key gene involved in the mismatch repair pathway. The K589E polymorphism in EXO1 may alter the DNA repair activity of the encoded protein and impact lung cancer risk. The aim of this study was to investigate associations between the K589E polymorphism in EXO1 and lung cancer risk in the Iranian population, and evaluate its potential as a prognostic biomarker.
Methods: This case-control study was conducted to investigate EXO1 K589E variant with susceptibility to lung malignancy in the Iranian population. One hundred patients with lung cancer as a patient group and 100 healthy individuals from Khansari Hospital located in Markazi province were studied, from January 2020 to May 2022. DNA extraction from blood samples of participants was done using a kit.  Genotype determination of both patient and control groups was done using PCR-RFLP technique. Finally, statistical results were analyzed using SPSS software and the logistic regression method.

Results: Genotype and allele frequency  analysis showed the AA genotype (P=0.004, OR=5.391, 95% CI: 1.690-17.200) and A allele (P=0.010, OR=2.851, 95% CI: 1.291-6.300) were correlated with susceptibility to lung cancer. On the other hand, people carrying the G variant allele had a lower risk of lung cancer. Conclusion:  In summary, this study found the AA genotype and A allele of K589E in EXO1 are correlated with risk of lung cancer in Iranians, while the G allele has protective effects. The K589E polymorphism may serve as a prognostic biomarker for lung cancer susceptibility, but more studies with high population size are required.