Genetic factors and gene polymorphisms leading to the onset of autoimmune response in autoimmune hepatitis (AIH) are still not full elucidated. Since the CTLA-4 molecule is a key modulator of the lymphocytes responses we hypothezied that deficiencies or mutations in the gene encoding CTLA4 protein may be involved in AIH susceptibility and trigger the autoimmune response. We investigated 3 distinct polymorphic sites (+49A > G, CT60 G > A and -318C > T) of the CTLA4 gene in 50 AIH patients and 100 healthy controls using the KASP genotyping technology. A significant positive association with AIH susceptibility was found for the GG genotype in +49 position of the CTLA4 gene which was significantly higher in AIH patients compared to controls (28% vs 9%, p = 0.003, OR = 3.93 [1.56-9.88]). The CTLA4 A/A genotype in position CT60 was more significantly frequent in controls comparing to AIH patients and could be considered as a protective genotype for the tunisian patients. CTLA4 genotyping in position -318 did not show any statistically significant difference in genotype or allele distribution. The CTLA4 gene polymorphism in position +49 is associated to AIH susceptibility in the Tunisian population. Mutation in the CTLA4 gene may lead to a modification of the CTLA4 protein structure that could have functional relevance in AIH pathogenesis and onset.

Background: Autoimmune hepatitis (AIH) is a chronic inflammatory disease characterized by necrotic inflammation leading to hepatocyte destruction. The association of human leukocyte antigens (HLA) with AIH development and onset is not fully elucidated especially in the Tunisian population. Objectives: The aim of this study was to determine the association of HLA class II alleles and DRB1-DQB1 haplotypes with AIH in Tunisian population. Patients and Methods: A total of 30 AIH patients and 60 healthy controls were included in the study. HLA class II typing was performed by Single-specific-primer polymerase chain reaction (PCR-SSP) technique. Results: Among 13 DRB1 and 5 DQB1 alleles resolved, our results show a positive association of HLA-DRB1∗03 (38.3% vs. 21.6%, OR = 2.24, P = 0.028) and negative association of HLA-DRB1∗11 (3.3% vs. 16.7%, P = 0.019). The analysis of DRB1-DQB1 haplotypes in cases and controls revealed 11-shared haplotypes with a frequency exceeding 1%. HLA-DRB1∗11-DQB1∗03 haplotype showed a decreased frequency in AIH patients (1.6% vs. 15.8%, P = 0.009) and may be considered as an haplotype of resistance to AIH. Conclusions: To our Knowledge, this is the first study performed to detect the HLA-DRB1 and DQB1 alleles associated with predisposition to AIH in Tunisian patients. The search for HLA predisposing genes to AIH may permit an earlier diagnosis allowing a better management and treatment of the disease in order to avoid liver transplantation

Background/Objectives: Chronic low back pain (LBP) remains a leading cause of disability and healthcare utilization globally, with complex, multifactorial pathophysiology. Despite advances in imaging, diagnosis often remains challenging due to poor correlation between structural findings and clinical symptoms. Recent evidence suggests inflammatory mechanisms may underlie persistent pain. This study investigated whether systemic inflammatory cytokines are altered in military personnel with chronic LBP and examined their relationships with clinical manifestations, psychological factors, and radiological findings. Methods: In this cross-sectional study, we enrolled 50 patients with chronic non-specific LBP (duration ≥ 3 months) and 50 age-, sex-, and BMI-matched healthy controls. All patients underwent a comprehensive clinical assessment, which included evaluation of pain intensity (VAS), neuropathic pain screening (DN4), psychological assessment (HADS), fibromyalgia screening (FIRST), and assessment of functional disability (Oswestry Disability Index and Roland-Morris Disability Questionnaire, EIFEL). Serum levels of IL-6, IL-8, IL-1β, TNF-α, and IL-10 were measured using chemiluminescence and enzyme-linked immunosorbent assay (ELISA) techniques. Radiological findings were documented through MRI and CT imaging of the lumbar spine. Results: Serum IL-8 levels were significantly elevated in patients with chronic LBP compared to healthy controls (8.52 ± 6.7 vs. 4.8 ± 0.56 pg/mL, p < 0.001). Weak positive correlations were observed between IL-8 levels and anxiety scores (r = 0.3, p = 0.02) and functional disability, as measured by the EIFEL questionnaire (r = 0.3, p = 0.04); however, these associations did not remain significant after Bonferroni correction for multiple testing. Similarly, IL-6 showed a weak positive correlation with BMI (r = 0.21, p = 0.03) and a weak negative correlation with lumbar mobility, as assessed by Schober’s test (r = −0.38, p = 0.03), which also did not survive correction for multiple comparisons. Conclusions: This study identified serum IL-8 as a potential biomarker for chronic LBP. While we observed associations between specific inflammatory markers and psychological distress and functional disability, these correlations were weak and did not remain significant after correction for multiple testing. These preliminary findings suggest possible connections between inflammation and the psychophysiological aspects of chronic LBP that warrant further investigation in larger cohorts.