Frequency of polymorphic variants of the IFNG (rs2069705) and IL28b (rs12979860) genes depending on the severity of clinical manifestations of Opisthorchis felineus invasion
Jul 2026· Meditsinskiy sovet = Medical Council· pp. 217-223· 0 citations· 23 references
TL;DR
Patients with opisthorchiasis who have the rs2069705 IFNG polymorphism should be identified during dispensary observation as a risk group to prevent the development of complications of parasitic invasion, which include liver fibrosis and hepatocellular carcinoma.
Abstract
Introduction.
The study of the role of cytokines in cellular interactions in liver diseases is currently given great importance. However, studies in this area in patients with Opisthorchis felineus (O. felineus) invasion are still limited.
Aim
. To study the relationship between laboratory and instrumental manifestations of pathology with polymorphisms of the genes IFNG (rs2069705) and IL28b (rs12979860) in patients with O. felineus invasion.
Materials and methods
. A total of 360 patients with O. felineus invasion (170 men and 192 women, mean age 42.1 ± 0.7 years) and 124 control group individuals (65 men and 59 women, mean age 48.3 ± 1.1 years) were examined. O. felineus invasion was diagnosed using duodenal bile microscopy and coproovoscopy. All patients underwent complete blood count, biochemical blood test, abdominal ultrasound, and liver elastometry with liver fibrosis assessment using the METAVIR scale. Genotyping of single nucleotide polymorphisms of the genes IFNG (rs2069705) and IL28b (rs12979860) was performed using real-time PCR. Results. In patients with O. felineus invasion, liver fibrosis was associated with the heterozygous TC genotype for the rs2069705 IFNG polymorphism. Elevated alkaline phosphatase levels and an increased proportion of blood eosinophils were more prevalent in patients with the homozygous CC genotype of the rs2069705 IFNG polymorphism. We found no association between the rs12979860 IL28b polymorphism and manifestations of O. felineus invasion.
Conclusion.
From our point of view, patients with opisthorchiasis who have the rs2069705 IFNG polymorphism should be identified during dispensary observation as a risk group to prevent the development of complications of parasitic invasion, which include liver fibrosis and hepatocellular carcinoma.
It is concluded that no detectable association was found between the TMPRSS6 rs1421312 SNP and IDA, and no detectable associations were found with Hepcidin levels, sTfR1, or the sTfR1-Ferritin Index.
D. Akbar, Hasan Al-Jaf, Ammar Lateef et al.· passer of basic and applied...· 0 citations
The combined influence of sex and coagulation-related genetic variants on thrombo-inflammatory patterns in COVID-19 patients highlights the potential clinical importance of considering sex-genotype interactions when evaluating thrombo-inflammatory responses and may contribute to more personalized risk assessment and management strategies in patients with COVID-19.
Gülsel Ayaz, B. Batar, B. Topçu et al.· Journal of Thrombosis and Th...· 0 citations
Aim: The study aims to explore the relationship between TLR2 (rs3804100), TLR4 (rs1927914), and TLR7 (rs179008) gene polymorphisms and Human Cytomegalovirus (HCMV) serostatus in Iraqi women, and to assess the association between spontaneous abortion (SA) and these polymorphisms. Methods: A case-control study involving 200 women compared 100 who had SAs before 20 weeks of gestation with 100 healthy pregnant controls from Diyala and Babylon Governorates. The study utilised qualitative ELISA to detect HCMV IgG and IgM antibodies in serum and employed the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique for genotyping TLR2 (rs3804100 T>C), TLR4 (rs1927914 G>A), and TLR7 (rs179008 A>T) polymorphisms. Results: The study revealed that HCMV IgG and IgM antibodies were significantly elevated in women with SA compared to the control group (P < 0.001). No notable association was found between the TLR2 rs3804100 polymorphism and SA. Notably, there were marked differences in the genotype and allele distributions of TLR4 rs1927914 and TLR7 rs179008 observed between the cases and controls. Specific genotypes of TLR4 and TLR7 genes were associated with modified odds of SA. Furthermore, the high prevalence of HCMV IgG may be linked to genetic associations, particularly TLR genotypes, whereas analysis of HCMV IgM was constrained by the low prevalence observed in control subjects. Conclusions: Variations in the TLR4 and TLR7 genes may be associated with the risk of SA in women in this population. The influence of HCMV seropositivity on immune-related genetic associations should be approached with caution. Further studies with larger sample sizes and consideration of confounding variables are needed.
Nedhal Mahmuod Khaleefah, B. J. Al-Tmimi, A. Gatea· Exploration of Immunology· 0 citations
Background: Granulomatosis with polyangiitis (GPA) is an autoimmune disorder that results from an interplay of genetic factors and environmental influences. We investigated the association between two polymorphisms in the VEGF gene, specifically rs2010963 and rs833061, and the likelihood of developing GPA. Methods: A case-control study involving 224 participants was conducted, comprising 104 individuals diagnosed with GPA and 120 control subjects. The high-resolution melting (HRM) technique was employed for genotyping these polymorphisms. Results: The findings revealed a significant difference in the distribution of the CC genotype and C allele for rs2010963 between the control and case groups (CC vs GG; OR: 2.687; 95% CI [1.185-6.264], P: 0.014; C vs G; OR: 1.628; 95% CI [1.097-2.421], P: 0.012). Moreover, patients with the GC + CC genotype exhibited elevated mean levels of creatinine, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP), as well as a higher incidence of alveolar hemorrhage compared to those with the GG genotype. Concerning rs833061, no association with GPA risk was identified; however, correlations were noted with certain laboratory and clinical parameters, including PR3-ANCA levels, septal perforation, alveolar hemorrhage, renal involvement, and rapidly progressive glomerulonephritis (RPGN). Conclusion: The C allele of rs2010963 is linked to an increased risk of developing GPA and certain laboratory and clinical parameters, while the rs833061 polymorphism does not appear to be associated with GPA risk but is correlated with various laboratory and clinical indices.
Amirali Pourebrahimi, Mozhdeh Saghaei, Naeim Ehtesham et al.· Caspian Journal of Internal...· 0 citations
Background: Psoriasis is an inflammatory skin disease caused by genetic and environmental factors. Although data on Iraqi patients are poor, there may be a relation between the vitamin D receptor (VDR) gene and susceptibility to psoriasis. Objective: This study aims to analyze the association between the VDR ApaI (rs7975232) gene polymorphism and the tendency toward psoriasis in Iraqi patients and to evaluate serum levels of vitamin D3, ferritin, and zinc. Method: A case-control study was conducted on 45 patients with psoriasis and 35 age- and sex-matched control group. Genotyping of the Vitamin D receptor rs7975232 polymorphism was done by high-resolution melting (HRM) analysis. Automated analyzers tested serum vitamin D3, ferritin, and zinc levels. Statistical analyses were performed using GraphPad Prism software. Results: The allele frequency was considerably higher in patients (40.0%) than in the control group (24.3%), which conferred an elevated risk of psoriasis (OR = 2.07, 95% CI: 1.01–4.24, p = 0.046). AA carriers showed the lowest mean vitamin D3 level (15.0 ± 3.7 ng/mL, p = 0.0043) and highest mean ferritin level (223.6 ± 67.2 ng/mL, p = 0.0136). Levels of vitamin D3 and zinc were considerably lower in patients than in the control group (p<0.001 for both), and the highest mean ferritin level (p<0.001). Conclusions: The A allele of the VDR rs7975232 polymorphism was associated with increased susceptibility to psoriasis in Iraqi patients. AA carriers showed the lowest mean vitamin D3 and zinc levels and the highest mean ferritin level; however, genotype-related differences in these biochemical parameters were not statistically significant within the patient group.
Safana S. Dardouh, M. Mohammed, Mohammad M. F. Al-Halbosiy· Adolescência e Saúde· 0 citations