Objective: Pterygium is a fibrovascular conjunctival degeneration whose pathogenesis remains unclear, although many risk factors have been identified. In our study, we purposed to find the level of Actin Related Protein 2 (ACTR2) gene expression in healthy conjunctiva tissues and pterygium to increase our understanding of the pathogenesis of pterygium. Methods: The study included 27 patients who underwent pterygium excision. ACTR2 mRNA expression level in healthy conjunctiva tissues and pterygium were determined by the Real-Time PCR method. Results: According to the results we obtained, ACTR2 gene expression was increased in 74% (20/27) of our cases, while ACTR2 gene expression was decreased in 26% (7/27). ACTR2 mRNA expression was detected to be remarkably higher in pterygium in proportion to conjunctiva tissue (p < 0.05). Conclusion: Our findings show that the ACTR2 gene and cell migration mechanism may play a role in the development of pterygium. However, supplementary research is requirement to determine the efficacy of the ACTR2 gene in pterygium disease and to better understand the relationship of the ACTR2 gene with pterygium.

Abstract Alopecia areata (AA) is a common, has organ-specific semptoms and an autoimmune disease that targets hair follicles and causes scarring, hair or hair loss. Although the etiopathogenesis of AA has not been clarified yet; In addition to attitude, psychological factors and persistence factors, autoimmune and inflammatory cells have a polygenic character in which genes are effective. Immunological hair follicle dysfunction process in AA are controlled by activated T cells. It is thought that cytokines released in T cells may cause hair loss in AA. Studies have reported that various genes of the immune system, such as interleukin and cytotoxic T lymphocyte-associated antigen 4 (CTLA4), are effective in the development of the cell membrane, and dysfunction of the CTLA-4 antigen may be associated with various diseases. The CTLA-4 gene polymorphism is thought to be associated with impaired control of T cell proliferation, and this gene is thought to be a candidate gene for susceptibility to autoimmunity. This study was conducted to investigate whether CTLA4 CT60 A/G and +49AG polymorphisms have a role in susceptibility to Alopecia Areata. 195 patients and 173 healthy volunteer controls were included in the study, and genotype and allele frequencies were determined by PCR-RFLP method. The obtained data were analyzed with OpenEpi. Our results showed that the +49AG polymorphism was not associated with AA susceptibility in the Turkish population, but the CT60 polymorphism might be associated with AA susceptibility. However, more studies are needed to confirm our results. Key Words: Alopecia areata, CTLA4, Immunity, PCR-RFLP Özet Alopesi areata (AA), saç foliküllerini hedef alan ve yara izi, saç veya saç dökülmesine neden olan yaygın, otoimmün bir hastalıktır. AA'nın etyopatogenezi henüz netlik kazanmamış olmakla birlikte; Tutum, psikolojik faktörler ve kalıcılık faktörlerine ek olarak, otoimmün ve enflamatuar hücreler, genlerin etkili olduğu poligenik bir karaktere sahiptir. AA'daki kıl folikülü disfonksiyon mekanizmaları immünolojiktir ve aktifleştirilmiş T hücreleri tarafından kontrol edilir. T hücrelerinde salınan sitokinlerin AA'da saç dökülmesine neden olabileceği düşünülmektedir. Çalışmalar, interlökin ve sitotoksik T lenfosit ilişkili antijen 4 (CTLA4) gibi bağışıklık sisteminin çeşitli genlerinin hücre zarının gelişiminde etkili olduğunu ve CTLA-4 antijeninin işlev bozukluğunun çeşitli hastalıklarla ilişkili olabileceğini bildirmiştir. . CTLA-4 gen polimorfizminin, T hücre proliferasyonunun bozulmuş kontrolü ile ilişkili olduğu ve bu genin otoimmüniteye yatkınlık için aday bir gen olduğu düşünülmektedir. Bu çalışma, CTLA4 +49AG ve CT60 polimorfizmlerinin Alopesi Areata'ya duyarlılıkta rolü olup olmadığını araştırmak amacıyla yapılmıştır. 195 hasta ve 173 sağlıklı kontrol çalışmaya dahil edildi ve genotip ve alel frekansları PCR-RFLP yöntemi ile belirlendi. Elde edilen veriler OpenEpi ile analiz edilmiştir. Sonuçlarımız, Türk popülasyonunda +49AG polimorfizminin AA duyarlılığı ile ilişkili olmadığını, ancak CT60 polimorfizminin AA duyarlılığı ile ilişkili olabileceğini göstermiştir. Ancak, sonuçlarımızı doğrulamak için daha fazla çalışmaya ihtiyaç vardır. Anahtar Kelimeler: Alopesi areata, CTLA4, Bağışıklık, PCR-RFLP

Colorectal cancer is a highly prevalent cancer with a high mortality rate. Although the colorectal carcinogenesis mechanism is not fully understood yet, it has been proven that most cancers result from the accumulation of genetic mutations, mostly in the genes responsible for cell cycle regulation, leading to uncontrolled and excessive cell growth. Hence, cyclins may have a significant role in cancer development and progression. Although many studies have been carried out on the expression of these cyclin proteins to indicate their role in colorectal cancer development and their correlation with patient outcome, the currently available data is quite controversial; thus, no certain conclusions can be made. This review article summarizes current knowledge regarding the role of G1/S cyclins, such as cyclin D, E, and A, in colorectal cancer and discusses their potential as prognostic biomarkers and therapeutic targets. Hence, it may provide the groundwork for future research.

Purpose: The aim of this study was to investigate whether there is a relationship between surfactant protein B (SFTPB) C1580T polymorphism and acute bronchiolitis. Materials and Methods: The study analyzed the allele frequency and genotype distribution for the SFTPB C1580T polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique in 103 acute bronchiolitis infants and 102 healthy infants. Results: The results showed no association between SFTPB C1580T polymorphism and clinical characteristics of acute bronchiolitis. The distribution of the CT genotype was higher in acute bronchiolitis infants (43%) than in healthy subjects (39%) and distribution of the TT genotype was found lower in acute bronchiolitis infants (38%) than in healthy subjects (41%). No significant differences in genotype distribution and allele frequency for the SFTPB C1580T polymorphism were found between case group and control group Conclusion: SFTPB C1580T gene polymorphism plays no important role in susceptibility to acute bronchiolitis. Further work on the relevance of SFTPB C1580T polymorphism in larger cohorts will require validating our results.

Periodontitis, mikroorganizmalar ve konak bağışıklık sistemindeki dengesizlik sonucu ortaya çıkan, periodonsiyumda yıkıma ve kemik kaybına neden olan ve aynı zamanda sistemik sağlığı tehdit eden kronik inflamatuar bir hastalıktır. İnflamatuar ve immün yolların düzensizliği kronik inflamasyona, doku yıkımına ve hastalıklara neden olur. Bu nedenle doğal ve adaptif immün defektler, periodontitis gibi immün aracılı inflamatuar hastalıklarda önemli bir rol oynamaktadır. İmmün hücrelerin doğru ve koordineli hareketi, göç, hücre aktivasyonu, antijen alımı ve tanınması gibi birçok süreçte rol oynayan aktin hücre iskeletinin düzenlenmesine bağlıdır. Çalışmalar, önemli bir aktin hücre iskeleti düzenleyicisi olan Wiskott-Aldrich sendromu proteini (WASP) ekspresyon seviyesindeki değişikliklerin, immün ve inflamatuar yanıt oluşumunda kusurlara neden olduğunu göstermiştir. Çalışmamızda periodontitis ve sağlıklı dişeti dokusunda WASP gen ekspresyonunun araştırılması ve periodontitis ile olası ilişkisinin ortaya konması amaçlanmıştır. Bu doğrultuda çalışmaya 10 gönüllü dahil edildi ve her hastadan sağlıklı dişeti ve periodontitis dokusu alındı. Gen ekspresyon seviyeleri SYBR Green temelli PCR ile belirlendi. Sonuçlarımıza göre periodontitis dokularında WASP mRNA düzeyleri sağlıklı dişeti dokusuna göre istatistiksel olarak anlamlı derecede yüksek bulundu (p

Purpose: The aim of this study was to investigate whether there is a relationship between surfactant protein B (SFTPB) C1580T polymorphism and acute bronchiolitis. Materials and Methods: The study analyzed the allele frequency and genotype distribution for the SFTPB C1580T polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique in 103 acute bronchiolitis infants and 102 healthy infants. Results: The results showed no association between SFTPB C1580T polymorphism and clinical characteristics of acute bronchiolitis. The distribution of the CT genotype was higher in acute bronchiolitis infants (43%) than in healthy subjects (39%) and distribution of the TT genotype was found lower in acute bronchiolitis infants (38%) than in healthy subjects (41%). No significant differences in genotype distribution and allele frequency for the SFTPB C1580T polymorphism were found between case group and control group Conclusion: SFTPB C1580T gene polymorphism plays no important role in susceptibility to acute bronchiolitis. Further work on the relevance of SFTPB C1580T polymorphism in larger cohorts will require validating our results.

Age-related macular degeneration (AMD) is a non-recyclable visual disorder among elderly people worldwide and AMD is one of the leading causes of blindness. Former studies, interleukins were found to be effective in patients with AMD. This study’s object, the relationship of serum interleukin 17 with age-related macular degeneration was evaluated. Interleukin 17 levels were measured by ELISA method using the blood sera of 100 patients diagnosed with age-related macular degeneration and 100 healthy individuals in the control group. Acording to the results of the study, the differences between the patient and control groups of interleukin 17 levels was found statistically significant (p:0,001; p > 0,05). It was found that gender difference in patients did not affect interleukin 17 levels (p=0,649; p > 0,05). In the study, there was a significant relationship between age-related macular degeneration and serum interleukin 17.

Purpose: Obesity is defined as the abnormal or excessive accumulation of fat over acceptable limits. Leptin is a metabolic hormone present in the circulation in amounts proportional to fat mass. Leptin reduces food intake and increases energy expenditure, thus regulating body weight and homeostasis. Various polymorphisms are present in the leptin gene and its receptor. These polymorphisms may be associated with obesity. This study aimed to show the association of leptin (+19) AG, leptin (2548) GA, and Gln223Arg leptin receptor polymorphisms with obesity and metabolic syndrome in Turkish children aged 6-17 years, and to conduct further investigations regarding the genetic etiology of obesity. Methods: A total of 174 patients diagnosed with obesity and 150 healthy children who were treated at Tokat Gaziosmanpasa Medical School Hospital between September 2014 and March 2015 were included in this study. The ages of the children were between 6 and 17 years, and anthropometric and laboratory results were recorded. Genotyping of leptin (+19) AG, leptin (2548) GA, and leptin receptor Gln223Arg polymorphisms was performed by polymerase chain reaction. Results: An association between leptin receptor Gln223Arg gene polymorphism and obesity was detected. Conclusion: Further studies are needed to determine the role of genetic etiologies and to indicate the role of leptin signal transmission impairment in the pathogenesis of obesity. We hope that gene therapy can soon provide a solution for obesity.

Objectives The aim of this study was to identify the genotypic analysis and allele frequencies of the -173 G/C polymorphism in the macrophage migration inhibitory factor (MIF) gene in children diagnosed with familial Mediterranean fever (FMF). Methods The study included 98 children who were diagnosed with FMF according to the Tel Hashomer criteria and one hundred and 57 healthy children as the control group. Genotyping was done for a polymorphism in a promoter region of the MIF gene (G/C at position -173). Results The relationship of FMF prevalence and -173 G/C genotype of the MIF gene was statistically significant. Individuals with the CC genotype seem to be predisposed to FMF. Conclusion The C/C polymorphism at position -173 of the MIF gene could be associated with excessive inflammation and immune response and can lead to susceptibility to FMF

Purpose Pterygium, a degenerative and hyperplastic lesion, has premalignant properties as a tumor analog. WWOX is a tumor suppressor gene and involved in many signal pathways, such as cell proliferation, embryonic development, metabolism and apoptosis. In many cancers, the loss of WWOX or the presence of abnormal transcripts indicates the tumor suppressor activity of WWOX. In this study, it was aimed to determine WWOX gene expression and protein levels in pterygium which may be a tumor analog. Methods For this purpose, the WWOX gene expression change in 27 pterygium tissue was investigated by real-time PCR method, and the change in WWOX protein was investigated using the Western blot method. Results According to our results, it was found that the expression and protein levels of WWOX gene in pterygium tissue decreased significantly compared to control tissue (p < 0.05). Conclusion This information indicates that a decrease in expression and protein level in pterygium tissue of WWOX, a tumor suppressor gene, supports claims that pterygium may be a cancer analog tissue.

The etiology of pterygium remains unclear, but ultraviolet (UV) radiation is generally considered to be major risk factor. Pterygium has similarity features with many cancers, including inflammation, invasion, cell proliferation, anti-apoptosis, angiogenesis and recurrence after resection. Retinoic acid via cellular retinoic acid binding protein 2 (CRABP2) is involved in cell cycle arrest, apoptosis and differentiation, while it via fatty acid binding protein 5 (FABP5) is involved in survival, cell proliferation and angiogenesis, which pathway gets activated depends on the CRABP2/FABP5 ratio. Alterations of retinoid signaling were found in many cancer types. The deregulated retinoid signaling may also contribute to the development and/or recurrence of pterygium. The aim of our study was to determine mRNA and protein expressions of CRABP2 and FABP5 and ratio of CRABP2/FABP5 in primer and recurrent pterygium tissues. Pterygia tissues were collected from 30 eyes of 30 patients undergoing pterygium excision. CRABP2 and FABP5 mRNA and protein expression were assessed using Real-time PCR and Western blotting through examination of excised specimens from pterygium and conjunctiva tissues. The ratio of CRABP2/FABP5 gene expression was not altered when primary pterygium tissues compared normal conjunctival tissues (1.00-fold change). Whereas the ratio of CRABP2/ FABP5 gene expression was decreased when recurrent pterygium tissues compared normal conjunctival tissues (0.81-fold change). Understanding etiopathogenesis of pterygium may aid in the find of more promising treatments to prevent pterygium in earlier stages.

BACKGROUND:Although there have been significant advances for clarifying the pathogenesis of psoriasis, exact pathogenic mechanism of the disease is still unknown. Oxidative stress is considered to be a new etiopathogenetic key factor in the pathogenesis of psoriasis, as a result of the studies performing the association between psoriasis and paraoxonase 1 (PON1) activity. In this study, we aimed to examine the possible associations between the both PON1 L55M and PON1 Q192R polymorphisms and psoriasis susceptibility and disease progression in Turkish population.METHODS:The study group consisted of 100 unrelated patients with psoriasis and 153 unrelated healthy controls with no psoriatic lesions in their personal history or on clinical examination. Genomic DNA was extracted from peripheral leukocytes from EDTA-anticoagulated blood using the High Pure Polymerase Chain Reaction Template Preparation Kit. To identify PON1 L55M and Q192R single-nucleotide polymorphisms, genotyping was performed using commercially synthesized primers and fluorescently labeled probes and the LightCycler 480 II Real-Time Polymerase Chain Reaction System. The genotyping method was based on methods developed previously for genotyping both PON1 55 and 192 polymorphisms using LightCycler real-time polymerase chain reaction technology, which relies on fluorescence resonance energy transfer.RESULTS:There was no significant difference between the PON1 L55M genotype distributions and allele frequencies of the psoriasis patients and the control group. There was a statistically significant difference between distributions of the genotype or allele frequencies of the PON1 Q192R of the patient groups and control subjects (P=0.0018 and P=0.0001, respectively). PON192Q/R polymorphisms have been found to be associated with susceptibility to psoriasis.CONCLUSIONS:This is the first report simultaneously investigating the possible associations between the PON1 L55M and PON1 Q192R polymorphisms and psoriasis susceptibility and disease progression in Turkish population. We provide evidence that PON1 Q192R polymorphisms may have an effect on the risk of psoriasis in the Turkish population.

BackgroundLeiomyoma, one of the most common benign tumors, causes morbidity during the reproductive years in women. The molecular pathogenesis of the disease is not clear. Leiomyomas are hormone‐sensitive tumors affecting around 20%‐25% of women. Gene polymorphism studies could be important and explaining in the evaluation of multifactorial diseases such as leiomyoma. Polymorphisms involving genes responsible for the synthesis and signalization of steroid hormones could be used as genetic markers for hormone‐related conditions. The purpose of this study was to analyze the effect of ERα‐351 XbaI A/G, ERα‐397 PvuII T/C, and progesterone receptor (PGR) PROGINS polymorphisms on the development of leiomyomas.Material and MethodsIn this study, 213 samples (103 leiomyoma patients and 110 healthy controls) participated. The ERα‐351 XbaI A/G and ERα‐397 PvuII T/C gene polymorphisms were analyzed using PCR‐RFLP method. PGR PROGINS polymorphism was analyzed by PCR method with specific primers.ResultsThe genotype distribution and allele frequency of the ERα‐351 XbaI A/G, ERα‐397 PvuII T/C, and PGR PROGINS polymorphisms were not statistically different between leiomyoma patient and control groups (p > 0.05).ConclusionThis study reflects that ERα and PGR PROGINS polymorphisms may not be one of the many genetic factors for leiomyoma susceptibility.

Purpose: The beta 3-adrenergic receptor (ADRB3) is expressed in visceral adipose tissue and has been speculated to contribute to lipolysis, energy metabolism, and regulation of the metabolic rate. In this study, we aimed to investigate the association of polymorphism of the ADRB3 gene with the sex of children with obesity and related pathologies. Methods: ADRB3 gene trp64arg genotyping was conducted in 441 children aged 6-18 years. Among these subjects, 264 were obese (103 boys; 161 girls) and 179 were of normal weight (81 boys; 98 girls). In the obese group, fasting lipids, glucose and insulin levels, and blood pressure were measured. Metabolic syndrome (MS) was defined according to the modified World Health Organization criteria adapted for children. Results: The frequency of trp64arg genotype was similar in obese and normal weight children. In obese children, serum lipid, glucose, and insulin levels; homeostasis model assessment of insulin resistance (HOMA-IR) scores; and MS were not different between arg allele carriers (trp64arg) and noncarriers (trp64trp). In 264 obese children, genetic analysis results revealed that the arg allele carriers were significantly higher in girls than in boys (p=0.001). In the normal weight group, no statistically significant difference was found between genotypes of boys and girls (p=0.771). Conclusion: Trp64arg polymorphism of the ADRB3 gene was not associated with obesity and MS in Turkish children and adolescents. Although no relationships were observed between the genotypes and lipids, glucose/insulin levels, or HOMA-IR, the presence of trp64arg variant was frequent in obese girls, which can lead to weight gain as well as difficulty in losing weight in women.

BackgroundAlopecia areata (AA), which appears as nonscarring hair shedding on any hair‐bearing area, is a common organ‐specific autoimmune condition. Cytokines have important roles in the development of AA. Interleukin (IL) 18 is a significant proinflammatory cytokine that was found higher in the patients with AA. We aimed to investigate whether the IL‐18 (rs187238 and rs1946518) single nucleotide polymorphisms (SNPs) may be associated with AA and/or clinical outcome of patients with AA in Turkish population.MethodsGenotyping of rs187238 and rs1946518 SNPs were detected using sequence‐specific primer‐polymerase chain reaction (SSP‐PCR) method in 200 patients with AA and 200 control subjects.ResultsThe genotype distribution of rs1946518 (−607C>A) SNP was found to be statistically significantly different among patients with AA and controls (P = .0008). Distribution of CC+CA genotypes and frequency of −607/allele C of rs1946518 SNP were higher in patients with AA (P = .001, P = .001, respectively). The genotype distribution of rs187238 (−137G>C) SNP was found to be statistically significantly different among patients with AA and control subjects (P = .0014). Distribution of GG genotype and frequency of −137/allele G of rs187238 SNP were higher in patients with AA (P = .0003, P = .001, respectively).ConclusionThe rs1946518 (−607C>A) and rs187238 (−137G>C) polymorphisms were found associated with alopecia areata disease. The study suggests that IL‐18 rs187238 and rs1946518 SNPs may be the cause of the AA susceptibility.

Background: Chondrosarcoma is the third most common malignant tumor of the bone and most commonly occurs between 30 and 60 years. Primary tumors form directly in bone and soft tissues, whereas secondary tumors develop on existing benign cartilage-containing tissue. Case Presentation: In this case report, we presented a rare case of cervical chondrosarcoma in a patient who admitted to the hospital with a swelling in the neck. There was the history of Multiple Hereditary Exocytosis in the male patient aged 33 years and in his family. On X-ray, MRI and CT scans, there was an expansive mass appearance with dimensions of about 14x6x7.5 cm in the right cervical region. The tumor did not expand toward the spinal canal. The needle biopsy revealed that the patient had a chondrosarcoma, thus extensive resection was performed. Malign tumors of the cervical spine have a good prognosis if en bloc resection is possible.

Aim: Childhood obesity is increasing in incidence and is strongly associated with obesity in adulthood. Several studies to explain the role of genetics in the pathogenesis of obesity have been performed. The aim of this study was to investigate the relation between +45T>G single nucleotide polymorphism (SNP) and childhood obesity. Material and Method: 268 obese and 185 healthy (control) children and adolescents aged 6-17 years were enrolled. Laboratory tests including fasting glucose, insulin level, and lipid profile were drawn only from the obese participants. The +45T>G SNP in adiponectin gene was analyzed from the members of both groups by a polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) method. Results: The genotype frequencies of the adiponectin gene for +45 locus in exon 2 were 77.9%, 19.1%, and 3% in obese subjects and 72.1%, 23.5%, and 4.4% in the control group for TT, TG, and GG respectively (p=0.357), with the allelic frequency of the G allele 12.5% in obese subjects and 16.1% in controls (p=0.129). When we compared different adiponectin genotypes, there wasn't any significant difference in frequencies of TT genotype (wild type) and non-TT (TG+GG) genotypes between the obese and control groups (p=0.162). Also, comparing GG genotype and non-GG (TG+TT) genotypes revealed no significant difference between the obese and control groups (p=0.439). Among obese subjects there were no significant relationships between different genotypes and clinical characteristics such as presence of hypertriglyceridemia, low high-density lipoprotein (HDL-C), hypertension, and insulin resistance. Discussion: In conclusion, in the present study, in a well-described obese and a control group of pediatric patients, we observed a lack of association between the +45T>G SNP and childhood obesity and its traits.

Aim: Alopecia areata (AA) is a disease characterized with hair loss on the hair skin any region of the body. This disease affects approximately 1-2% of the general population. The etiopathogenesis of this disease is unclear but infections, genetic, psychological and autoimmune factors is known play to role. Vitamin D is thought to be a regulator of the immune system and the action of it is dependent on the vitamin D receptor (VDR). Given the autoimmune component shared by this autoimmune diseases. In this study investigated the role of VDR gene polymorphisms in the development of AA. Material and Method: The study group included 198 patients with AA and 167 control. Genomic DNA was extracted from blood samples using DNA isolation kit. The frequency of VDR gene polymorphisms genotypes and allelic variants were analyzed by using Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphisms (RFLP) method. Results: Statistical evaluation of data results showed a not significant association for genotypic frequency distribution between the VDR gene BsmI (rs1544410) and ApaI (rs7975232), TaqI (rs731236) polymorphisms and AA (p= 0.8891, 0.7309, 0.6761, respectively). Discussion: Our study reflects that VDR gene polymorphisms could not play a role in determining genetic susceptibility to AA.