Association of synaptosomal-associated protein 25 (SNAP-25) gene polymorphism with temperament and character traits in women with fibromyalgia syndrome

Background: Synaptosomal-associated protein 25 (SNAP-25) may be contribute to the pathogenesis of fibromyalgia Syndrome (FMS) by affecting the release of neurotransmitters. Objectives: We aimed to investigate the relationship between the SNAP-25 gen (DdeI = rs1051312 and MnlI = rs3746544) polymorphism and the temperament and character traits. Methods: A total of 85 female patients diagnosed with FMS and 70 age-matched healthy female subjects were enrolled into the study. The Temperament and Character Inventory (TCI) were performed on all the patients. SNAP-25 gene polymorphism was determined in the patients group and controls group. Results: No significant difference between groups was found regarding the distribution of SNAP-25 MnlI polymorphism (p > 0.05), but it was seen that the frequency of TC genotype for DdeI gene was higher in the patients group (p < 0.05). Increased hazard avoidance was found in the patients group (p < 0.05). When TCI scores were assessed in terms of SNAP-25 gene polymorphism, no statistically significant relationship was detected between the TT, TG, GG genotypes for MnlI gen and TCI scores (p > 0.05). However, increased hazard avoidance was detected in patients with TC genotype for DdeI gene compared to patients without such genotype. Discussion: SNAP-25 might be an etiological factor in FMS pathogenesis and might affect personality traits of FMS patients by mediating neurotransmitter release

Possible role of GADD45γ methylation in diffuse large B-cell Lymphoma: Does it affect the progression and tissue involvement?

Objective: Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma among adults and is characterized by heterogeneous clinical, immunophenotypic, and genetic features. Different mechanisms deregulating cell cycle and apoptosis play a role in the pathogenesis of DLBCL. Growth arrest DNA damage-inducible 45 (GADD45γ) is an important gene family involved in these mechanisms. The aims of this study are to determine the frequency of GADD45γ methylation, to evaluate the correlation between GADD45γ methylation and protein expression, and to investigate the relation between methylation status and clinicopathologic parameters in DLBCL tissues and reactive lymphoid node tissues from patients with reactive lymphoid hyperplasia. Materials and Methods: Thirty-six tissue samples of DLBCL and 40 nonmalignant reactive lymphoid node tissues were analyzed in this study. Methylation-sensitive high-resolution melting analysis was used for the determination of GADD45γ methylation status. The GADD45γ protein expression was determined by immunohistochemistry. Results: GADD45γ methylation was frequent (50.0%) in DLBCL. It was also significantly higher in advanced-stage tumors compared with early-stage (p=0.041). In contrast, unmethylated GADD45γ was associated with nodal involvement as the primary anatomical site (p=0.040). Conclusion: The results of this study show that, in contrast to solid tumors, the frequency of GADD45γ methylation is higher and this epigenetic alteration of GADD45γ may be associated with progression in DLBCL. In addition, nodal involvement is more likely to be present in patients with unmethylated GADD45γ. © 2015 Turkish Society of Hematology. All rights reserved

Vitamin D receptor gene polymorphisms and haplotypes (Apa I, Bsm I, Fok I, Taq I) in Turkish psoriasis patients

Background: Psoriasis is an inflammatory disease characterized by increased squamous cell proliferation and impaired differentiation. Vitamin D, Calcitriol, and its analogues are successfully used for psoriasis therapy. However, it is unknown why some psoriasis patients are resistant to Vitamin D therapy. Vitamin D mediates its activity by a nuclear receptor. It is suggested that polymorphisms and haplotypes in the VDR gene may explain the differences in response to vitamin D therapy. Material/Methods: In this study, 102 psoriasis patients and 102 healthy controls were studied for VDR gene polymorphisms. The Fok I, Bsm I, Apa I and Taq I polymorphisms were examined by PCR-RFLP, and 50 subjects received vitamin D therapy to evaluate the association between VDR gene polymorphisms and response to vitamin D therapy. Existence of cutting site is shown by capital letters, and lack was shown by lower case. The haplotypes were analysed by CHAPLIN. Results: There was significant difference in allele frequency of T and genotype frequency of Tt between cases and controls (p values 0.038 and 0.04, respectively). The Aa and bb genotypes were significantly higher in early onset than late onset psoriasis (p values 0.008 and 0.04, respectively). The genotypes Ff, ff and TT are significantly different between vitamin D3 therapy responders and non-responders (p values 0.04, 0.0001, 0.009, respectively). To the best of our knowledge, this is the first report showing importance of VDR gene haplotypes in psoriasis, the significance of the Wald and LR (Likelihood Ratio) statistics (p=0,0042) suggest that FfBbAatt is a disease-susceptibility haplotype. Conclusions: Haplotype analysis is a recent and commonly used method in genetic association studies. Our results reveal a previously unidentified susceptibility haplotype and indicate that certain haplotypes are important in the resistance to vitamin D3 therapy and the onset of psoriasis. The haplotypes can give valuable data where genotypes unable to do. © Med Sci Monit

Familial Translocation (2;18) Ascertained Through Recurrent Spontaneous Abortions

We report a young woman who presented with a reproductive history of two recurrent spontaneous abortions. Genetic etiology of recurrent fetal loss is determined by the demonstration of parents' chromosomal constitution. Analysis of the family members from 2 generations revealed 3 phenotypically normal individuals carying the same reciprocal translocation. The great majority of apparently balanced translocations are associated with multiple miscarriages and normal phenotype. The proband's karyotype was identified as 46, XX, t (2;18) (p15; p11.2) by giemsa banding techniques. The karyotypes of the proband's father and brother are 46, XY, t (2;18) (p15;p11.2). Her sister had two spontaneus abortions, her chromosomal analysis could not be determined because she was living in another city. Cytogenetic studies of unbalanced miscarriages are difficult due to the growth failure of early loss and usually macerated abortions. Reciprocal translocations are of great clinical importance. The carriers of balanced reciprocal translocations have increased risk of creating gametes with unbalanced chromosome translocations leading to miscarriages or children with abnormalities. Genetic counseling and genetic testing is often offered o families carrying a translacation

Comparison of IL-23 receptor gene polymorphisms in patients with primary sjögren syndrome, ankylosing spondylitis. and ankylosing spondylitis with sjögren’s syndrome

Objectives: The frequency of Interleukin-23 receptor (IL-23R) gene polymorphism was previously studied in Ankylosing spondylitis (AS) and Sjögren syndrome (SS). However, it hasn’t been studied in patients AS with SS. Methods: The study included 124 patients with AS, 55 patients with SS and 12 patients with association of AS and SS. Results: It was found that there was an increase in the frequency of rs10889677 gene mutant genotype while a decrease in the frequency of in rs11209032 gene mutant genotype in AS group compared to the healthy controls. In SS group, it was found that there was an increase the frequencies of rs11805303 gene wild genotype and rs2201841 gene wild genotype while a decrease in the frequencies of rs11209032 gene heterozygote genotype and rs10489629 gene mutant genotype when compared to healthy controls. CGCAA haplotype was associated with risk for AS (P=0.0125; RR: 1.32). CGCAG haplotype was associated with protective effect against ankylosing spondylitis (P=0.0042; RR: 0.52). While CTCAA haplotype was found to be protective against SS (P=0.022; RR: 0.46), it was associated with increased risk for association of AS and SS (P=0.0095; RR: 2.79). CTCAG haplotype was associated with protective effect against association of AS and SS (P=0.0151; RR: 0.02). It was observed that TGCGG haplotype increased significantly in SS group compared to the healthy controls and that it was related with increased risk for SS (P=0.032, RR: 2.56). Conclusion: Genotype distribution and genetic diversity vary among ethnic groups. Studies with larger sample size are needed to further clarify this issue. © 2016, E-Century Publishing Corporation. All rights reserved

Comparison of IL-23 receptor gene polymorphisms in patients with primary sjogren syndrome, ankylosing spondylitis. and ankylosing spondylitis with sjogren's syndrome

Objectives: The frequency of Interleukin-23 receptor (IL-23R) gene polymorphism was previously studied in Ankylosing spondylitis (AS) and Sjogren syndrome (SS). However, it hasn't been studied in patients AS with SS. Methods: The study included 124 patients with AS, 55 patients with SS and 12 patients with association of AS and SS. Results: It was found that there was an increase in the frequency of rs10889677 gene mutant genotype while a decrease in the frequency of in rs11209032 gene mutant genotype in AS group compared to the healthy controls. In SS group, it was found that there was an increase the frequencies of rs11805303 gene wild genotype and rs2201841 gene wild genotype while a decrease in the frequencies of rs11209032 gene heterozygote genotype and rs10489629 gene mutant genotype when compared to healthy controls. CGCAA haplotype was associated with risk for AS (P=0.0125; RR: 1.32). CGCAG haplotype was associated with protective effect against ankylosing spondylitis (P=0.0042; RR: 0.52). While CTCAA haplotype was found to be protective against SS (P=0.022; RR: 0.46), it was associated with increased risk for association of AS and SS (P=0.0095; RR: 2.79). CTCAG haplotype was associated with protective effect against association of AS and SS (P=0.0151; RR: 0.02). It was observed that TGCGG haplotype increased significantly in SS group compared to the healthy controls and that it was related with increased risk for SS (P=0.032, RR: 2.56). Conclusion: Genotype distribution and genetic diversity vary among ethnic groups. Studies with larger sample size are needed to further clarify this issue

A variant allele of the Mediterranean-fever gene increases the severity of gout

Background: Gout is a clinical syndrome that occurs as an inflammatory response to increased concentration of uric acid and monosodium urate crystals. Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance. The Mediterranean fever (MEFV) gene is responsible for FMF and encodes pyrin that suppresses the inflammatory response. Most of the FMF-related mutations have been identified in exon 2 (e.g., E148Q and R202Q) and exon 10 (M680I, M694V, M694I and V726A) of the MEFV gene, and each missense mutation is known to increase production of interleukin-1, a proinflammatory cytokine. Our aim was to investigate effects of MEFV variant alleles on the manifestations of gout. Methods: Seventy-one patients diagnosed with gout (age: 61.73 ± 11.73 years, F/M: 14/57) and 50 healthy subjects (age: 61.48 ± 11.97, F/M: 10/40) as controls were included in this study. Results: MEFV variant alleles were found in 24 (33.8%) of the gout patients and in 13 (26%) of the control subjects; the difference was not statistically significant. In the gout patients with a MEFV variant allele, the interval between the first two attacks was shorter (P = 0.014), and the platelet count was higher (P = 0.026), compared to the patients without a variant allele. In addition, the patients with a MEFV variant allele showed the higher incidence of tophus (8.5% vs. 1.4%) (P = 0.005) and the higher number of attacks per year (P = 0.001). Conclusion: We propose that a variant allele of the MEFV gene may be responsible for the severity of gout. © 2016 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Lt