In Alzheimer's disease, which is characterized by amyloid plaques and neurofibrillary tangles in the brain tissue, many components such as acute phase proteins, cytokines, and proteases contribute to the progression of the disease or are part of the pathological process. The macrophage migration inhibitory factor (MIF) gene encodes a cytokine, which is secreted by lymphocytes, and has a role in the pathogenesis of autoimmune/inflammatory diseases such as rheumatoid arthritis. The purpose of this study to investigate the association between Alzheimer disease and MIF gene promoter polymorphisms. The 205 patients with Alzheimer disease (AD) and 130 age-sex matched healthy individuals were investigated in terms of MIF -173 G/C and MIF -794 CATT polymorphisms. The genotyping of MIF -173 G/C was determined using the RT-PCR method. MIF-794 CATT polymorphism was analyzed using PCR and DNA Sequencing. In terms of binary genotypes and haplotypes, the 5/5-GC (p = 0.004), 6/7-GG (p = 0.02) and, 6/6-GG (p = 0.026) binary genotypes, and 5-C (p = 0.003), 7-G (p = 0.026) and 6-G (p = 0.025) haplotypes were differed significantly between the patients and the controls. This is the first study investigating the relationship between AD and MIF in terms of different genotypes, haplotypes and, alleles. The fact that the binary genotype and allele distributions are significantly different between the patient and control group, suggests that this MIF variants may play a role in the pathogenesis of AD.

PURPOSE:Diabetic neuropathy (DN) is a serious complication of diabetes that affects peripheral and autonomic nerves, and it has been linked to irregularities in circadian rhythm. Several studies have demonstrated that disruptions in circadian rhythm and changes in expression of rhythm genes may play a role in the development and progression of diabetes, including the development of DN.METHODS:In this study, the association between the VNTR polymorphism of the PER3 gene and diabetic neuropathy was investigated. The study included 84 patients with diabetes, 220 patients with diabetic neuropathy, and 218 healthy individuals as the control group.RESULTS:Upon analyzing the data from the study, it was found that there was no significant difference in the PER3 VNTR polymorphism between the diabetic neuropathy patients, diabetes and control groups. However, there was a significant difference observed between the control group and the diabetes group, particularly in terms of the 5/5 genotype and 5 alleles. Moreover, a significant difference was observed between the patient group and the control group (p < 0.05).CONCLUSIONS:In conclusion, first in the world, the relationship between PER3 gene VNTR polymorphism and diabetic neuropathy and diabetes, was investigated. Our results showed that PER3 may be associated with diabetes but not with diabetic neuropathy.

Aims: Chronic HBV infection is associated with high morbidity and mortality rate due to increased risk of hepatic cirrhosis and hepatocellular cancer. Treatment modilities and resistance is currently investigated. Several mechanisms were underlying in drug resistance. P-glycoprotein (P-gp), the product of multidrug resistance gene (MDR-1), is well-known mechanism of MDR phenotype. MDR gene C1236T polymorphism is associated with decreased p-gp function. The mutation of MDR gene can affect the clinical course of disease and response rate to treatment. It was aimed to investigate the relationship between MDR gene polymorphism and clinical course and treatment responses in chronic HBV infection in our study. Methods: A total of 90 (male/female:69/21) patients with chronic HBV infection under Lamivudine treatment was enrolled in this study. Mean ages were 49.8±12.6 (range:22-75) years. The patients were categorized as: Treatment responded (group 1: HBV-DNA is negative at 24th week) and treatment refractory (group 2: HBV-DNA is still positive after 24th week). Group 1 was consisted of 51 (M/F: 38/13) and group 2 was consisted of 39 (M/F: 31/9) patients. There was no significant difference between ages and genders of two groups. Histologic activity indexes (HAI), total bilirubin, AST and ALT levels, HBV-DNA titers were significantly higher in the patients in group 2 than group 1 (p<0.05). Results: Genotype distributions; homozygous CC genotype was in 8 (15.7%),heterozygous CT genotype was in 37 (%72.5), homozygous TT genotype wasin 6 (11.8%) in patients at group 1. Homozygous CC genotype was in 13 (33.3%), heterozygous CT genotype was in 21 (53.8%), homozygous TT genotype was in 5 (12.8%) in patients at group 2. CC genotype was more common in group 2 than group 1 (p=0.044). C and T alleles’ frequencies in the group 1 and 2 were 51.96% and 60.26%, 48.04% and 39.74%, respectively (p>0.05). The patients with YMDD mutation positive at group 2 (n:11), 5 (45%) had have CC genotype, 5 (45%) had have CT, 1 (9%) had have TT genotype.The patients with YMDD mutation negative at group 2 (n:8), 3 (37%) patients had have CC and 5 (63%) patients had have CT genotype. CC genotype was more common in the patients with YMDD mutation positive than group 1 (p=0.043). Moreover, CC genotype was more common in the patients with HBV-DNA positive at 12nd month of Lamivudine treatment than group 1 (p=0.042). Conclusion: Consequently; MDR-1 and p-gp polymorphisms are important factors in the clinical course of chronic HBV infection and may influence the treatment responses. In the current study, it was found that the CC genotype of MDR-1 gene C1236T was more common in the patients with lamivudine resistant HBV infection.

Multiple sclerosis (MS) is an inflammatory immune-mediated demyelinating disease that causes a challenging and disabling condition. Environmental and genetic factors play a role in appearing the state of the disease. Recent studies have shown that nuclear cofactor genes may play a role in the pathogenesis of MS. NCOA5 is a nuclear receptor coactivator independent of AF2 that modulates ERa-mediated transcription. This gene is involved in the pathogenesis of diseases such as psoriasis, Behcet’s disease, and cancer. We investigated the relationship between the rs2903908 polymorphism of the NCOA5 gene and MS among 157 unrelated MS patients and 160 healthy controls by RT-PCR. The frequencies of the CC, CT, and TT genotypes were 19.87

Abstract Background Multiple sclerosis (MS) is an inflammatory immune-mediated demyelinating disease which characterized a challenging and disabling condition. It is known that environmental and genetic factors play a role in directing the disease state. Recent studies have shown that nuclear cofactor genes may play a role in the MS pathogenesis. NCOA5 is a nuclear receptor coactivator independent of AF2 that modulate ERa-mediated transcription. NCOA5 gene is also involved in the pathogenesis of various diseases such as psoriasis, Behçet's disease and cancer.Methods and Results We were investigated the relationship between the NCOA5 gene rs2903908 polymorphism and MS disease on 157 unrelated MS patients and 160 healthy controls by RT-PCR. The frequency of CC, CT, and TT genotypes was 19.87%, 37.82%, and 42.31% for the MS group while 5.63%, 43.75%, and 50.62% control group, respectively. In the obtained results, CC genotype and C allele were found to be significantly higher in the patient group (p = 0.0002 and 0.003, respectively). In particular, the fact that the CC genotype was found to be significantly higher in the patient group compared to the control group (p = 0.0002) and that it had a statistically significantly higher OR value (OR,95%CI = 4.16, 1.91–9.05) suggests that the C allele may recessively predispose to the MS disease for this polymorphism.Conclusions These results suggest for the first time in the literature that, the NCOA5 gene may have an effect on the occurrence MS disease through different molecular pathways which discussed in the manuscript.

Crimean-Congo hemorrhagic fever (CCHF) is a deadly viral disease. Methylene-tetrahydrofolate reductase (MTHFR) has an important role in folate metabolism, and also in the formation of new cells, DNA synthesis, repair and methylation. We aimed to examine the relationship between MTHFR gene C677T (Ala222Val, rs1801133) and A1298C (Glu429Ala, rs1801131) polymorphisms with CCHF in a Turkish population. Totally 273 participants were included in the current study. One hundred forty-one participants were CCHF patients and one hundred thirty-two participants were healthy controls. The polymerase chain reaction (PCR) and further restriction fragment length polymorphism (RFLP) assays were applied to determine the genotypes of MTHFR polymorphisms. We did not find any differences between the CCHF patients and healthy controls in terms of allele and genotype distributions of both the C677T and A1298C polymorphisms. In composite genotype analysis between different groups, the frequency of CT-AA composite genotype, which is formed by C677T-A1298C polymorphisms, was found to be significantly higher in Mild CCHF patients compared to both Severe CCHF patients and controls (p = 0.036 and p = 0.008, respectively). In conclusion, in this study, we found a relationship between CCHF and MTHFR gene polymorphisms. CT-AA composite genotype of MTHFR gene C677T and A1298C polymorphisms showed a predisposition to Mild CCHF.

D Vitamini Kimyasal Yapısı ve Metabolizması Hülya Cenk D Vitamini Ve Genetik Aydın Rüstemoğlu D Vitamininin Normal Serum Düzeyleri, D Vitamin Düzeylerini Etkileyen Faktörler Ve D Vitamini Yetmezliği Sabiye Akbulut Serum D Vitamininin Ölçümü Andaç Uzdoğan, Çiğdem Yücel D Vitamini Biyoyararlanımı ve Doğal Beslenme Kaynakları Atilla Çifci, Halil İbrahim Yakut Sistemik D Vitamini Tedavi Ajanları, Biyoyararlanımı ve Tedavi Yönetimi Işıl Deniz Oğuz Topikal D Vitamini Tedavisi, Tedavi Yönetimi ve Kullanıldığı Hastalıklar Dursun Türkmen Deride D Vitamini Sentezi Mekanizmaları Abdullah Demirbaş, Ömer Faruk Elmas Güneşten Koruyucu Kullanımı ve D Vitamini Nursel Dilek, Yunus Saral D Vitamininin Deri Yapısı ve Fizyolojisine Etkisi Pelin Hızlı Deri Yaşlanması ve D Vitamini Ülker Gül Psoriasis ve D Vitamini Ülker Gül Psöriatik Artrit ve D Vitamini Mehmet Uçar Atopik Dermatit ve D Vitamini Ayşegül Ertuğrul, İlknur Bostancı Mast Hücresi ve Kutanöz Mastositozda D Vitamini Selçuk Doğan, Tülin Çataklı, İlknur Bostancı Ürtiker ve D Vitamini Kemal Özyurt Kaşıntı ve D Vitamini Kübra Yüce Atamulu Likenoid Dermatozlar ve D Vitamini Nihal Altunışık Vitiligo ve D Vitamini Ayşe Akbaş Melasma ve D Vitamini İbrahim Etem Arıca Rozase ve D Vitamini Nalan Saraç Akne ve D Vitamini Selma Korkmaz Hidradenitis Süpürativa ve D Vitamini Yılmaz Ulaş Seboreik Dermatit ve D Vitamini Dilek Başaran Otoimmün Büllöz Hastalıklar ve D Vitamini Sezgi Sarıkaya Solak Bağ Doku Hastalıkları ve D Vitamini Kevser Gök Behçet Hastalığı ve D Vitamini Şule Ketenci Ertaş, Ragıp Ertaş İdiyopatik Fotodermatozlar ve D Vitamini Bülent Nuri Kalaycı İktiyozis ve D Vitamini Tubanur Çetinarslan Epidermolizis Bülloza ve Vitamin D Eda Haşal Kseroderma Pigmentozum, Epidermodisplasia Verrusiformis ve D Vitamini Derya Yayla Nevüsler ve D Vitamini Serpil Şener, Suat Sezer Aktinik Keratoz ve Seboreik Keratozda D Vitamini Mahmut Sami Metin Deri Maliniteleri ve D Vitamini Sevda Önder Vaskülitler ve Vitamin D Havva Hilal Ayvaz Venöz Trombozis ve D Vitamini Cahit Yavuz Yara İyileşmesi ve D Vitamini Bülent Nuri Kalaycı Diyabetik Ayak Ülseri ve D Vitamini Gözde Ulutaş Demirbaş, Abdullah Demirbaş Granülomatöz Hastalıklar ve D Vitamini Selma Bakar Dertlioğlu Deri Enfeksiyonları ve Vitamin D Atıl Avcı Oral Mukoza Hastalıkları ve D Vitamini Ali İhsan Güleç Tırnak Sağlığı ve Hastalıklarında D Vitamini Hülya Cenk Alopesiler ve D Vitamini Munise Daye Hirsutizm ve D Vitamini Efşan Gürbüz Yontar Sistemik Kortikosteroid Kullanımında D Vitamini Desteği Selma Korkmaz Fototerapi ve D Vitamini Tuğba Özkök Akbulut Covıd-19 Ve Vitamin D Sibel Altunışık Toplu D Vitamini Tedavisinin Yan Etkileri ve D Vitamini Tedavisi Sürecinde Dikkat Edilecek Hususlar Dursun Türkmen, Nihal Altunışık D Vitamini Ve İlaç İlaç Etkileşimleri Şule Gökşin D Vitamini İntoksikasyonu Bedriye Müge SÖNMEZ

Purpose:: The aim of this study was to evaluate whether the VNTR intron 4b/4a variant in the eNOS gene is associated with type 2 diabetes mellitus (T2DM) and DPN. Methods:: A total of 598 subjects were enrolled in the study. eNOS VNTR 4b/4a variant was genotyped by polymerase chain reaction (PCR) method. Results:: eNOS VNTR intron 4b/4b genotype and b allele increased in patients with both DPN and T2DM compared healthy controls (p=0.0005, OR:1.94, p= 0.000002, OR:4.10, respectively). 4a/4b genotype was more prevalent in controls than in DPN and T2DM patients (p=0.00008, OR:0.46; p=0.000004, OR:0.24, respectively). eNOS VNTR b allele was more common in DPN patients and T2DM patients compared with controls (p=0.007, p=0.00002, respectively). Conclusion:: The eNOS VNTR “4b/4b” homozygous genotype and hence “4b”allele as a genetic risk factor for T2DM and DPN, which may serve as a useful marker of increased susceptibility to the risk of these disorders.

Brucellosis is one of the most common zoonotic diseases caused by Brucella. The disease is located genital organs in the females of mammals such as cattle, sheep, goats, dogs and pigs and cause to infertility, mastitis, preterm birth, placenta retention and metritis; in men it causes orchitis (gonorrhea inflammation). The bacteria can also spread from animals to humans and cause disease in humans. The aim of this study was to determine the prevalence of Brucellosis in milk collected from villages of Tokat province and districts. For this purpose, 161 cows, 58 sheep and 33 goat milk samples were investigated by Brucellosis agent with Milk Ring Test (MRT) and direct sowing method. At the end of the study, 24 of 161 cow's milk, 20 of 58 sheep's milk and 5 of 33 goat's milk were found to be positive by MRT. Of the 252 raw milk samples, 49 (n = 19.41%) were positive for MRT. Brucella melitensis biotype 3 were isolated from the 2 milk samples after the culturing from 49 samples with positive MRT. It was determined that 2 milk samples isolated from Brucea belong to 2 different sheep from the same herd. Thus, Brucella was isolated in 0.79% of all studied samples, 4.08% of MRT positive samples and 3.45% of sheep milk samples. As a result of our first study with milk collected from the villages and towns of Tokat province and districts, 19.41% of the samples were positive for MRT and 0.79% of the samples were isolated by direct planting method. Thus, in this study, it was determined that there is a certain amount of Bruceila agent in Tokat province and its districts and it shows that dairy products may pose a risk for Brucellosis.

Aim: The aim of this study was to determine the IC50 dose of endosulfan in the hippocampal HT22 cell line, and also to elucidate the effect of expression of DNA-PK, Bax, Bcl2 and Casp-3 genes involved in DNA repair and apoptotic pathway. Material and Methods: Cytotoxic effect of endosulfan and IC50 dose were determined by using XTT method after 24 hours of culture by applying endosulfan at 5 different concentrations (10, 25, 50, 75 and 100 μM) to HT22 cell lines. HT22 cells were then seeded into 6 sterile plates and treated with Endosulfan at IC50 for 12 hours. The expression changes of DNA-Pk, Bax, Bcl2 and Casp-3 genes, after total RNA isolation and cDNA formation, were determined by RT-PCR. Expression levels were calculated using the comparative 2 -ΔΔCt method. Results: After 24 hours of endosulfan treatment at different doses in HT22 cell lines, a significant loss of viability was observed in all endosulfan treated groups. It was determined by XTT test, that the IC50 dose of endosulfan was 50 μM in 24 hours treatment. After 12 hours administration of IC50 endosulfan dose in HT22 cells following the examinations of DNA-PK and some apoptotic genes we observed different amounts of increases in expression as follows; 5-fold for DNA-PK, 18-fold for Bax, and 4-fold for Casp-3. On the other hand, approximately 2-fold decrease was detected in Bcl-2 gene. Conclusion: The IC50 dose of 24-hour endosulfan administration in HT22 cell lines was found to be 50 μM. Expression changes in the proapoptotic and antiapoptotic genes have shown that apoptosis is induced in endosulfan-administrated cells. In addition, the increase in DNA-PK gene expression suggests that endosulfan causes DNA damage in cells and triggers DNA repair mechanisms.

Vitamin D (VD) levels and several variants in the vitamin D receptor (VDR) gene are associated with the occurrence of diseases of the bones and cartilage. The aim of this research was to study and compare the association of the BsmI variant in the VDR gene as well as VD levels in disc displacement with reduction (DDR) between patients and healthy controls. This was a case-control study, in which 104 patients of DDR and 102 healthy individuals were studied. The Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) was used to diagnose temporomandibular diseases. The VDR BsmI variant was investigated, after extraction of genomic DNA, by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and the VD level in serum was measured. The serum VD level was significantly different between the patient and the control group (mean (SD) 13.20 (11.02) ng/mL versus 18.44 (10.03) ng/mL, respectively) (p=0.008). Serum VD assessment revealed that serious vitamin D deficiency was more prevalent in the patients than the controls (50.96% versus 21.56%) (p=0.00001). Logistic regression analysis revealed that the bb genotype and b allele carriers of VDR BsmI variant were significantly associated with increased risk of DDR (p=0.022 and p=0.01, respectively). VDR BsmI BB genotype was higher in the control group than the patient group (p=0.045). Genotype distributions for BsmI variant in the controls and the patients were confirmed using the Hardy-Weinberg equilibrium equation. The BsmI variant of the VDR gene and VD deficiency play role in DDR aetiopathogenesis in a Turkish population. Vitamin D level and VDR BsmI variation may be effective in a possible genetic-based DC/TMD Axis III to be created in the future.

Objective: To investigate the association between IL-1Ra variable number of tandem repeat (rs2234663), IL-6 -597GA (rs1800797), IL-6 -572GC (rs1800796) and the risk of Crimean-Congo hemorrhagic fever (CCHF) in the Turkish patients. Methods: This study included 50 patients infected with CCHF and 50 healthy controls. These variants were genotyped using polymerase chain reaction and/or restriction fragment length polymorphism method. Results: The distribution of the IL-6 -572GC genotypes and alleles varied significantly between the patients and the controls. The subjects carrying IL-6 -572GC GG genotype and G allele had increased risk of developing CCHF compared to the control group (P=0.006, P=0.014, respectively). IL-6 -572GC GC genotype was higher in the controls than the patients (P=0.006). For the triple genotype combinations, the 1/2-GC-GG genotype combination was detected more frequently in the control group than CCHF patients (P=0.016). IL-6 (-572/-597) GG-GG genotype was significantly higher in the patient group (P=0.015), while the GC-GG genotype was significantly lower in the patient group (P=0.005). Additionally, the G-G haplotype was significantly higher in the patient group (P=0.042), whereas C-G was found to be significantly lower in the patients than the control group (P=0.037). Conclusions: The results of this study suggest the IL-6 -572GC variant might be genetic markers of sensitivity to CCHF in the Turkish population and may facilitate greater protection against the disease.

Glioblastoma (GB) is the most lethal brain tumor that resists standard treatments because of its high malignancy. Radiotherapy (RT) directly affects the clinical success on GB treatment. Epigenetic modifications occur in GB cells at a high rate. Improving the therapeutic efficacy of RT over epigenetic modulators may contribute to the development of a targeted treatment in GB. Trichostatin A (TSA), a histone deacetylase inhibitor, a natural antifungal compound. The aim of this study was to investigate the effect of TSA on radiosensitivity when combined with RT in GB cells. Different concentrations of TSA (in the range of 100–1000 nm) and 8 Gy RT were applied to GB LN-405 cells as alone and combination simultaneously. Cell viability was determined by MTT. In the RT application, 3D conformal technique, which can represent GB clinical practice, was used. Cell viability was significantly reduced in both TSA and TSA + RT combination groups compared to control group (p < 0.05). When the TSA was compared with the TSA + RT combination, it was found that TSA increased the radiosensitivity by 17–41% depending on the dose. This is the first study to show that TSA increases the radiosensitivity in GB LN-405 cells in the literature.

Mortality rates of Crimean-Congo hemorrhagic fever (CCHF) vary from 5% to 80%. However, there is no clear information available about why this disease is fatal for some people while others recover. In this study, the factors related to fatalities and serious clinical progression of CCHF patients and the correlation between serious prognosis and IL 28-B gene polymorphism were investigated. The study included 107 patients with a preliminary diagnosis of CCHF, and the patients were found positive for CCHFV RNA based on polymerase chain reaction (PCR) analysis. The IL 28-B rs12979860 polymorphism was identified by PCR "restriction fragment length polymorphism" (PCR-RFLP) analysis using blood samples from the patients. In addition to the IL 28-B analysis results, a variety of data along with laboratory records obtained during the hospital stay were evaluated using statistical analysis. Of the 107 cases, nine were fatal (8.4%), while the other patients recovered and were discharged. Twenty-four patients had the CC genotype (22.43%), 64 had the CT genotype (59.81%), and 19 had the TT genotype (17.76%). Of the nine patients who died, three had the CC genotype (33.33%) and six had the CT genotype (66.67%). None of the patients who died had the TT genotype. Symptoms and findings of diarrhea, abdominal pain, hemorrhage, and rash were more common in fatal cases than in non-fatal cases. The IL 28-B rs12979860 polymorphism was not found to have a statistically significant correlation with fatality or symptoms indicating serious clinical progression in CCHF patients. As has been observed in previous studies, our study showed that leukocytosis, abdominal pain and diarrhea were more common in fatal cases.

Introduction: Osteoporosis is a common disease, and several factors contribute to its development. Recently, there has been increasing evidence that vitamin K (VK) plays a critical role in maintaining bone strength. Vitamin K serves as a co-factor for the gamma-carboxylation of particular proteins to convert specific glutamic acid residues to gamma-carboxyglutamic acid residues. This process involves two enzymes, gamma-glutamyl carboxylase and vitamin K epoxide reductase (VKORC1). The number of studies investigating the effects of VKORC1 gene mutations on bone mineral density in postmenopausal osteoporosis patients is limited. The aim of this study was to investigate the relationship between the VKORC1 -1639G>A polymorphism and osteoporosis in postmenopausal Turkish women. Methods: The study group consisted of 176 postmenopausal women with osteoporosis and 140 healthy postmenopausal women. The selection criteria for the healthy controls included non-osteoporotic bone mineral density (BMD) and similar demographic characteristics to the osteoporosis group. The genotyping of the VKORC1 -1639G>A polymorphism was conducted using the restriction fragment-length polymorphism method. Results: We found that the genotype frequencies of the GG, GA and AA genotypes were 25.6, 64.2 and 10.2% in the patients and 33.6, 55.8 and 10.7% in the controls, respectively. In the patient and control groups, the genotype distribution of the studied locus was found to be non-compatible with Hardy-Weinberg equilibrium. We found a nonsignificant association between the -1639G>A polymorphism in the VKORC1 gene and osteoporosis in postmenopausal Turkish women. Conclusion: We have shown that the VKORC1 -1639G>A polymorphism is not a risk factor for postmenopausal osteoporosis.

BACKGROUND Diabetic peripheral neuropathy (DPN) is one of the most common complications of Type 2 diabetes mellitus (T2DM). This study was conducted to investigate the possible association between interleukin-1β (IL-1β) rs16944 /IL-1 receptor antagonist (IL-1Ra) VNTR variants and genetic susceptibility to DPN in a Turkish cohort. METHODS A total of 200 subjects were enrolled in this study, 98 patients with DPN and 102 cases of age and sex-matched healthy controls. Genotyping was performed for all individuals using PCR-RFLP analysis. RESULTS IL-1β rs16944 CC genotype had a 3.20-fold increased risk for DPN (p=0.0003, OR=3.20, 95% Cl:1.72-5.96). IL-1β rs16944 CT genotype was higher in healthy control than patients (p=0.004). IL-1β rs16944 C allele was higher in the patient group compared to controls while T allele was lower in patients than controls (p=0.003). IL-1Ra VNTR a1/a1 and a2/a2 genotypes were lower in DPN patients while a1/a2 genotype was higher in patients (p=0.045). The patients carrying a1/T haplotype had decreased risk of DPN than control groups (p=0.004). The patients carrying a2/a2 genotype had lower HDL level (p=0.039). The subjects carrying a2/a2 genotype had higher total cholesterol level while the subjects carrying a1/a2 genotype had lower total cholesterol (p=0.026 and p=0.037, respectively). IL-1Ra a1 allele was associated with higher HDL level (p=0.041). CONCLUSION Findings of this study indicated that the IL-1β rs16944 and IL-1Ra VNTR variants are probably to be associated with susceptibility DPN risk in a Turkish cohort.

Crimean-Congo hemorrhagic fever (CCHF) is an acute viral hemorrhagic fever caused by Crimean Congo hemorrhagic fever virus (CCHFV). Paraoxonase-1 (PON1) is a high density lipoprotein (HDL)-binding protein which defense the body against oxidative stress. To investigate the role of the PON1 gene in CCHF, we screened the genotypes of two single nucleotide polymorphisms (Q192R [rs662] and L55M [rs854560]) in CCHF patients stratified according to course of severity and mortality by using PCR-based RFLP assay. Overall, 132 patients diagnosed as CCHF were enrolled in this study. The frequencies of the three genotypes and two alleles of Q192R and L55M polymorphisms didn't show any statistically significant differences in terms of mortality and disease severity (p > 0.05). Any statistically significant differences were not found between severe and mild and fatal and non-fatal CCHF patients according to seven composite genotypes (p > 0.05). When we analyzed the clinical characteristics of CCHF patients stratified according to PON1gene polymorphisms, any statistically significant differences were not also observed (p > 0.05). Our study showed no possible association between genotypes of PON1 gene Q192R and L55M polymorphisms and CCHF.

MicroRNAs (miRNAs) are small conserved non-coding RNA molecules that post-transcriptionally regulate gene expression. Although it is reported in many studies that there are associations between alterations of miRNA homeostasis and pathological conditions such as cancer, psychiatric and neurological diseases, cardiovascular disease and autoimmune disease, the effects of common genetic variants of these genes on male infertility are unclear. To better understand this effect, we performed a case-control study including a total of 108 infertile men with idiopathic azoospermia and 125 fertile control subjects. Real-time polymerase chain reaction was used to genotype six single-nucleotide polymorphisms (SNPs) of microRNA biogenesis pathway genes and the associations between individual and combined genotypes and idiopathic azoospermia were analysed. The results showed significant difference between the individual AA genotype frequency of the GEMIN3 (rs197388) gene in the patient and control groups, indicating that the AA genotype may be considered as indicative of a higher predisposition to idiopathic azoospermia. The combined genotype analysis, including six SNPs, revealed statistically significant differences between the patients and control subjects for some combinations. For example, the frequency of genotype distributions of the AA\CA-CC-TT-AT genotype combination for the XPO5-RAN-DICER1GEMIN3 combined loci was significantly different, and it may be considered a predisposition to idiopathic azoospermia. According to the obtained results, both individual and combined genotypes of SNPs from miRNA genes may be used to predict the risk of male infertility with idiopathic azoospermia.

Coronary artery disease (CAD) is the most prominent cause of mortality worldwide. The basis of CAD pathogenesis is the occlusion of coroner vessels progressively due to atherosclerotic plaques. NPCI gene plays a critical role in the atherosclerosis progression. This study aimed to examine whether 644 A -> G polymorphism of NPCI is associated with the risk of coronary artery disease in Turkish patients. In this case-control study, 200 persons were studied (100 patients and 100 controls). The 644 AEG polymorphism of NPCI gene is analyzed using polymerase chain reaction and restriction fragment length polymorphism methods. There was a significant relationship between the distribution of coronary artery disease and control group in terms of allele and genotype frequency (p= 0.0002) (p=0.003), respectively. According to the researchers' results, 644 A -> G polymorphism in NPCI gene can be one of the predisposition factor to coronary artery disease in Turkish population.