Ayse Feyda Nursal

MTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort

Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine (Hcy) metabolism. We aimed to evaluate a possible relationship between MTHFR gene C677T (rs 1801133), A1298C (rs 1801131) variants and susceptibility to FMF in a Turkish cohort.

The possible role of CCR5Δ32 mutation in Crimean‐Congo hemorrhagic fever infection

Crimean‐Congo hemorrhagic fever infection (CCHF) is a viral zoonosis. The pathogenesis of this disease has not been established so far, however, cytokines account for its progression and outcome. The aim of the present study is to investigate the association between chemokine receptor 5 (CCR5) gene Δ32 mutation and pathogenity, severity, and mortality of CCHF. This case‐control study included 133 CCHF patients diagnosed by detection of CCHV RNA positivity and 97 healthy control subjects. CCR5 gene Δ32 mutation analyzed by polymerase chain reaction (PCR) method. The results were compared by using SPSS 16.0 and WINPEPI softwares. The genotype distribution and allele frequency of the CCR5Δ32 were statistically different between the patients and the control group (P = 0.017; OR: 4.98 95% CI = 1.65‐14.99 and P = 0.019; OR:4.76 95%CI = 1.30‐17.50, respectively). CCR5/CCR5 (W/W) genotype and W allele of CCR5 gene were more common in patient group than in controls. There was no significant difference in severe and mild cases with regard to genotype distribution and allele distribution of CCR5Δ32 mutation (P >0.05). These results suggest that the CCR5 gene and its product might play a role in the pathogenesis of CCHF disease. Future studies will help us to uncover the exact role of CCR5 in the pathogenesis and prognosis of CCHF and to treat the disease.

Relationship between major depressive disorder and ACE gene I/D polymorphism in a Turkish population

Background Major depressive disorder (MDD) is a complex disease and a significant health problem that is prevalent across the world. Angiotensin-converting enzyme (ACE) has an important role in renin-angiotensin system (RAS) and converts inactive angiotensin I to a potent vasopressor and aldosterone-stimulating peptide angiotensin II. Levels of ACE in plasma vary according to the insertion/deletion (I/D) polymorphism of ACE gene. Objective The aim of the current study was to examine the influence ACE gene I/D variations on the risk of MDD. Methods In the present case-control study, we analyzed ACE I/D polymorphism in 346 MDD patients and 210 healthy subjects using polymerase chain reaction technique. Results Comparing the two groups, no significant difference was observed with regard to either genotype distributions or allele frequencies of the I/D polymorphism of ACE gene. Discussion Our findings suggest that the ACE I/D polymorphism is not associated with MDD in Turkish case-control study. Further studies are still needed.

Effects of carvedilol on an ischemia/reperfusion model: Biochemical, histopathological and immunohistochemical evaluation

The aim of this study was to investigate the effects of carvedilol (CVD) on experimentally induced ovarian ischemia/reperfusion (I/R) injury in rats.

Interleukin-1Ra rs2234663 and Interleukin-4 rs79071878 Polymorphisms in Familial Mediterranean Fever

OBJECTIVE Familial Mediterranean Fever (FMF) is an autosomal recessively inherited auto inflammatory disorder. MEFV gene, causing FMF, encodes pyrin that is associated with the interleukin-1 (IL-1) related inflammation cascade. The aim of this study was to investigate the relationship of interleukin-1 receptor antagonist (IL-1Ra) and interleukin-4 (IL-4) polymorphisms with the risk of FMF in the Turkish population. METHODS This study included 160 patients with FMF (74 men, 86 women) and 120 healthy controls (50 men, 70 women), respectively. Genotyping of IL-1Ra rs2234663 polymorphism was evaluated by gel electrophoresis after polymerase chain reaction (PCR). The IL-4 rs79071878 polymorphism was determined by PCR-based restriction fragment length polymorphism (PCR-RFLP) analysis. The results of analyses were evaluated for statistical significance. RESULTS There was no significant difference in IL-1Ra genotype and allele distributions between FMF and the control groups (p>0.05). However, a significant association was observed between FMF patients and control groups according to IL-4 genotype distribution (p=0.016), but no association was found in the allelic frequency of IL-4 between FMF patients and the controls (p>0.05, OR: 1.131, CI 95%: 0.71-1.81). CONCLUSIONS The IL-4 rs79071878 polymorphism, was associated whereas the IL-1Ra rs2234663 polymorphism was not associated with FMF risk in the Turkish population. Larger studies with different ethnicities are needed to determine the impact of IL-1Ra and IL-4 polymorphism on the risk of developing FMF.

XRCC4 rs6869366 polymorphism is associated with susceptibility to both nicotine dependence and/or schizophrenia

Background: Oxidative stress induced DNA damage has been assumed to contribute to the etiopathogenesis of schizophrenia (Sch). Smoking prevalence was more common in patients with Sch. The X-ray repair cross-complementation group 4 (XRCC4) gene plays an important role in the repair of DNA double-strand breaks. Objective: The purpose of this study was to investigate whether XRCC4 rs6869366 polymorphism has a relationship both in nicotine dependence (ND) and Sch+ND risk. Methods: One hundred and four patients with Sch+ND, 133 subjects with ND only and 70 healthy controls were enrolled in the study. XRCC4 rs6869366 polymorphism was analyzed using PCR-RFLP assay. Results: The frequency of XRCC4 rs6869366 GG genotype was more common in the ND and Sch+ND group than controls (p = 0.001 and p = 0.001, respectively). XRCC4 rs6869366 TT genotype was lower in both ND and Sch+ND group compared to controls (p = 0.001 and p = 0.001, respectively). Also, XRCC4 rs6869366 G allele was higher in Sch+ND group than controls (p = 0.001) while XRCC4 rs6869366 T allele was lower in ND group than healthy controls (p=0.001). XRCC4 rs6869366 GT genotype was lower in ND group than control group (p = 0.003). Discussion: These results suggested that the XRCC4 rs6869366 polymorphism G related genotype/allele was associated with susceptibility to both ND and Sch+ND in a Turkish population. Pehlivan S et al. / Arch Clin Psychiatry. 2018;45(3):53-6

Possible association between DNA repair gene variants and cannabis dependence in a Turkish cohort: a pilot study

ABSTRACT OBJECTIVE: Substance use disorder (SUD) has important effects on health and well-being. It is well known that genetic factors play a role in SUD. The purpose of this research was to investigate whether functional variants of DNA repair genes might be a risk factor for cannabis and/or synthetic cannabis dependence in a Turkish cohort. METHODS: In total, 131 patients with cannabis and/or synthetic dependence and 70 healthy controls were included in this case–control study. XRCC1 codon 399 (rs25487) and XRCC4 G1394 T (rs6869366), and XPD (rs13181) variants were determined by the polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP). RESULTS: The XRCC1 rs25487 GG genotype and G allele were significantly lower in patients compared to controls (p = 0.005; p = 0.002, respectively). XRCC4 rs6869366 TT genotype and T allele were more common in patients compared to controls (p = 0.001, p = 0.001, respectively). It was found that patients with XPD rs13181 Lys/Gln had a significantly higher risk of cannabis dependence than control did (p = 0.00). The subjects carried XPD rs13181 Gln/Gln genotype had a 2.2-fold increased risk for cannabis dependence (p = 0.010). CONCLUSIONS: We demonstrated for the first time that DNA repair gene variants may alter individual vulnerability for SUD. This observation could be of further interest to researchers, as it could suggest new candidate genes, presumably crucial for the etiopathogenesis of the cannabis and/or synthetic cannabis dependence.

Macrophage Migration Inhibitory Factor –173GC Variant Might Increase the Risk of Behçet’s Disease

Objective: The aim of the present study was to investigate any possible association between the macrophage migration inhibitory factor (MIF) –173GC variant and Behçet’s disease (BD) in a group of Turkish patients. Subjects and Methods: A total of 111 patients with BD and 100 healthy controls were enrolled in this study. Genomic DNA was extracted from peripheral lymphocytes. The MIF –173GC variant was genotyped using polymerase chain reaction restriction fragment length polymorphism. The allele and genotype frequencies of patients and controls were compared using the χ2 test. Results: A statistically significant difference in the distribution of the genotype was observed between BD patients and healthy controls. The homo-genotype CC was more prevalent in the patient group compared to the control group (p = 0.008, OR: 0.24, 95% Cl: 0.05–0.78). A significant association was observed when the patients were compared with the controls according to GG + GC versus CC genotypes (p = 0.003, OR: 1.21, 95% CI: 0.06–0.063). Allele frequencies of the MIF −173GC variant did not show any statistically significant difference between patients and controls. Conclusion: In this study, we conclude that the CC genotype of the MIF –173GC variant may be a risk factor in the pathogenesis of BD in the Turkish population. However, further studies with larger samples are needed to address the exact role of this variant in BD.

The IL‐1Ra gene variable number tandem repeat variant is associated with susceptibility to temporomandibular disorders in Turkish population

Temporomandibular joint disorders (TMD) are a group of disorders involving temporomandibular joint and related structures. Interleukine‐1 receptor antagonist (IL‐1Ra) is an important anti‐inflammatory molecule that competes with other interleukin‐1 molecules. This study was designed to investigate the possible association of the IL‐1Ra VNTR variant with the risk of TMD in the Turkish population.

Effect of a functional variant of tumor necrosis factor-β gene in temporomandibular disorders: A pilot study

Temporomandibular disorders (TMD) are a group of conditions that cause chronic orofacial pain. The tumor necrosis factor β (TNF‐β) is a proinflammatory cytokine that is involved in the various aspects of the inflammatory process including organization and maintenance, and in the arrangement of cells at the inflammation site. The purpose of this study was to evaluate the correlation between TNF‐β +252A/G (rs909253) variant and susceptibility to TMD in a Turkish cohort.