Toll-like receptors (TLRs) play a key role in innate immune response activation against viruses. TLR7, one of the TLRs family, is potentially important in controlling viral infection and the production of vaccines against the virus. The wide spectrum of discrepancy in response to antiviral drugs among different populations which is emerged by some pandemics like COVID-19 might be due to their different TLR7 single nucleotide polymorphisms (SNPs). The present study aimed to investigate the consequences of 401 non-synonymous missense SNPs (nsSNPs) within TLR7 on its protein structure, stability, and function by using specific bioinformatics tools. Seven bioinformatics tools were used to investigate 401 TLR7 nsSNPs from the dbSNP database. The results showed that the six variations, rs1171508003 (R262H), rs35160120 (F580S), rs968155471 (H587Q), rs202028806 (Y871D), rs1331496205 (W933S), and rs181600414 (R1004W), were found to be extremely deleterious by all of the employed bioinformatics tools. All six variations showed an impact on the protein’s structure, function, and stability. Among them, Y871D (rs202028806) and R1004W (rs181600414) were revealed as the most damaging nsSNPs. This study suggested that the predicted six damaging variants of TLR7 could indirectly or directly destabilize the structure of protein and deviate its function to some extent.
Colorectal cancer (CRC) is the most common gastrointestinal malignancy and one of the top ten common cancers worldwide with approximately 2 million cases. There are multiple risk factors that could lead to CRC emergence; of which are genetic polymorphisms. Excision repair cross-complementing group 2 (ERCC2) gene encodes for ERCC2 enzyme which plays a crucial role in maintaining genomic integrity by removing DNA adducts. Several studies suggested that there could be a link between genetic polymorphisms of ERCC2 gene and the risk of CRC development. Hence the present study aims to validate the relationship between the following ERCC2 single nucleotide polymorphisms (rs13181, rs149943175, rs530662943, and rs1799790) and CRC susceptibility. A t
... Show MoreThyroid carcinoma incidence is increasing year after year and ranking second among top ten cancers in Iraq, especially among women, and this increased the requirement for the improvement of the molecular detection accuracy because of its potential role in the early detection. Two single nucleotide polymorphisms (rs1136410, A>G and rs1805414, A>G) in PARP1 gene were found to be associated with thyroid carcinoma risk in several genome wide association studies, therefore, this is a case-control study that was carried out to identify whether these polym
... Show MoreBackground: Alopecia areata(AA) is a common autoimmune disease that causes hair loss without scarring. It occurs as a result of T-helper 1 (Th1) and Th17 cells attacking the anagen hair follicles. Genetic factors play a role in the occurrence of infection, which stimulates the production of pro and anti-inflammatory interleukins. Polymorphisms of IL-37 play a role in autoimmune diseases. However, IL37 single nucleotide polymorphisms(SNP) have not been identified in patients with AA. Therefore, this study aimed to reveal the IL37 gene SNP and its relationship to AA. Methods: Genotyping of IL-37 gene single nucleotide polymorphisms SNPs were detected using sequence-specific primer-polymerase chain reaction (SSP-PCR) method was done following
... Show MoreGenetic and environmental factors are believed to have a key role in the development and pathogenesis of autoimmune thyroid diseases (AITD). This study aimed to investigate the association between two CTLA-4 gene single nucleotide polymorphisms (SNPs) CT60/rs3087243 and CT61/rs11571319 with autoimmune thyroiditis in a sample of Iraqi patients. Seventy-five patients (67 females, 8 males) and eighty-eight subjects (79 females and 9 males) matched in age, gender, and ethnicity as a control group. Thyroid autoantibodies were present in females more than in males with a total positivity of anti-TPO of 92% and anti-TG positivity of
57.3 %. Thyroid evaluation tests including T3, T4, and TSH were abnormal only in patients not receiving L-th
Acute myeloid leukemia (AML) represents the most prevalent type of acute leukemia in adults and is responsible for approximately 80% of all cases. The tumor suppressor gene (TP53) is a gene that has been frequently studied in cancer, and mutations in this gene account for about 50% of human cancers. This study aims to evaluate the correlation between two single nucleotide polymorphisms (SNPs) in the gene: rs1042522 and rs1642785, and a group of Iraqi patients suffering from pre-diagnostic acute myeloid leukemia (AML). Blood samples were collected from sixty patients (26 males and 34 females) and sixty controls (26 males and 34 females); these subjects were matched in gender, age, and ethnicity. Genomic DNA has been extracted fro
... Show MoreBackground: Polymorphisms in the TNF-α gene affect the development and progression of rheumatoid arthritis. Objective: To investigate the associations between (-806 T/C) and (-857 T/C) SNPs with rheumatoid arthritis severity and susceptibility in a sample of Iraqi patients. Methods: A case-control study was conducted in Baghdad, Iraq. Twenty healthy controls and 63 patients confirmed to be newly diagnosed with rheumatoid arthritis were included. Those are divided into two groups (patients and controls), and the patients were further subdivided into severe and mild-moderate groups. Samples from those participants were analyzed for clinical and inflammatory parameter measurements. Genotyping by the Sanger method was performed to stu
... Show MoreRheumatoid arthritis (RA) is an inflamed chronic autoimmune disease in which genetics and environment are the most common causative factors. Peptidyl arginine deiminase type IV (PADI4) is an enzyme responsible for the posttranslational conversion of arginine residues into citrulline. Real-time polymerase chain reaction (RT-PCR) is a specific technique was used to determine gene polymorphism. One hundred twenty three patients molecularly confirmed with RA and sixty healthy control subjects were recruited. By applying the logistic regression analysis, some alleles and genotypes were associated with susceptibility to RA. Under the allelic model, C allele frequency was significantly increased in RA patients compared
... Show MoreCytokines play a prominent role in etiology and pathogenesis of rheumatoid arthritis (RA), and one of these cytokines is interleukin-1β (IL-1β). The association between IL1B gene single nucleotide polymorphism (SNP: rs16944) and rheumatoid arthritis (RA) in a sample of Iraqi patients was investigated. Fifty-one RA patients (21 males and 30 females) were enrolled and their age range was 20 - 63 years (44.9 ± 1.5 years). In addition to patients, 45 apparently healthy control subjects were also enrolled in the study. They matched patients for ethnicity (Iraqis), gender (14 males and 31 females) and age (41.3 ± 1.3 years). Analysis of Hardy-Weinberg equilibrium (HWE) in RA patients and controls revealed that the IL1B ge
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