ABSTRACT
The pathogenic mechanisms underlying Schizophrenia (SZ), one of the most frequent mental disorders, are complex and poorly understood. Several evidences suggest that inflammatory processes may underpin some of its neurobiological correlates. The aim of this study was: (i) to analyze the potential association between circulating levels of the C-reactive protein (CRP), a crucial inflammatory marker, and Schizophrenia in Tunisian patients and healthy controls (HC) cohorts; (ii) to investigate the genetic diversity of three CRP variants (rs1417938, rs1130864 and rs1205) and; (iii) to analyze a potential relationship between expression and genetic data and clinical and socio demographical characteristics. CRP polymorphisms were exanimated for 155 patients and 203 HC by taqMan5'-nuclease. High-sensitivity CRP (hs-CRP) serum level was measured in 128 clinically stable out-patient SZ patients and 63 HC subjects via an automated biochemical analyzer. We found that hs-CRP levels were significantly higher in SZ patients as compared to HC. No significant differences were found when the proportions of CRP variants were compared in patients and HC. Further analysis according to clinical and socio demographical characteristics revealed a positive association with age and hypertension. Our data on an original Tunisian sample confirm the previous finding in others population groups.
Subject(s)
C-Reactive Protein/analysis , Schizophrenia/blood , Schizophrenia/epidemiology , Adolescent , Adult , Aged , Biomarkers/analysis , Biomarkers/blood , C-Reactive Protein/metabolism , Case-Control Studies , Cohort Studies , Disease Susceptibility , Female , Humans , Male , Middle Aged , Risk Factors , Schizophrenia/etiology , Tunisia/epidemiology , Young AdultABSTRACT
BACKGROUND: The cyclooxygenase-2 (cox-2) pathway is now recognized to be important in human cancer development and progression. The gene for cox-2 carries a common single nucleotide polymorphism, T8473C, located within a potential functional region in the 3'-UTR of cox-2 gene was identified. We have investigated the frequencies of cox-2 genotypes in Tunisian population to determine whether that polymorphism was associated with the risk of nasopharyngeal carcinoma (NPC) in Tunisian population. MATERIAL AND METHODS: One hundred and eighty-nine NPC patients were compared to 237 healthy controls. RESULTS: The cox-2 T8473C polymorphism was significantly associated with NPC (P=0.031). The CC-genotype and C allele were more frequent in control compared to patients group [CC: OR=0.37; P=0.013; 95% CI: 0.17-0.81; C: OR=0.72; P=0.032; 95% CI: 0.53-0.97]. Multivariate logistic regression analyses revealed that the CC-genotype was associated with a significantly decreased risk of NPC (P=0.013). Tumor sizes, histologic grade, presence of primary lymph node metastases, age or sex were not associated with cox-2 genotypes. CONCLUSION: We conclude that the CC-genotype and C allele of cox-2 T8473C gene polymorphism are associated with decreased risk of nasopharyngeal carcinoma in a Tunisian population.
Subject(s)
Cyclooxygenase 2/genetics , Nasopharyngeal Neoplasms/genetics , Polymorphism, Single Nucleotide , Adult , Aged , Carcinoma , Case-Control Studies , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Nasopharyngeal Carcinoma , Nasopharyngeal Neoplasms/epidemiology , Risk Factors , Tunisia/epidemiologyABSTRACT
The interleukin 12 (IL-12) cytokine, encoded by polymorphic genes, plays a central role in the T helper 1 cell-mediated immunity against tumors. We investigated whether the 3' untranslated region +1188 A/C polymorphism (rs 3212227) influences the nasopharyngeal carcinoma (NPC) risk in Tunisian patients. DNA analysis of 247 patients and 284 healthy individuals showed a higher frequency of the 1188 C allele and the CC genotype in patients than in controls (P = 0.00001 and P = 0.00005) suggesting that the C variant allele is associated with the susceptibility to NPC. Additional testing showed that the homozygous CC genotype is also associated with advanced stage of the tumor extension at presentation (P = 0.022). Our data suggest that the impaired production of IL-12 behaves as a risk factor for NPC occurrence and progression.
Subject(s)
Genetic Predisposition to Disease , Interleukin-12 Subunit p40/genetics , Nasopharyngeal Neoplasms/genetics , Polymorphism, Genetic , Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Genotype , Humans , Male , Middle Aged , Models, Statistical , Neoplasm Metastasis , Retrospective Studies , Risk , Sequence Analysis, DNA , TunisiaABSTRACT
The 5,10 methylene tetrahydrofolate reductase (MTHFR) is an enzyme that catalyzes the irreversible reduction of 5,10 methylene tetrahydrofolate into 5 methyl tetrahydrofolate. It is coded by a gene where several polymorphisms have been identified. The most common is the C677T polymorphism described as presenting an heterogeneous worldwide distribution and associated with different disorders such as cardiovascular and cancerous diseases. The aim of this work was to determine the allelic and genotypic frequencies of the C677T polymorphism among a Tunisian healthy population. The study concerned 185 subjects apparently healthy. It was carried out by the PCR/RFLP method, using the restriction enzyme Hinf I. The results has showed an allelic frequency of 17.8% with a genotype frequency of 5.4%. These values are intermediate between those observed in Africa and those observed in Western countries. They must be considered in the evaluation of the clinic significance of a predisposition to diseases.
