Yazan: admin Tarih: Tem 23rd, 2010 | Kategori::
Gene polymorphisms
Cell Biochem Funct. 2010 Jun;28(4):274-7.
Büyük U, Ates O, Dalyan L, Müsellim B, Ongen G, Topal-Sarikaya A.
Department of Molecular Biology and Genetics, Istanbul University, Turkey. atopal@istanbul.edu.tr
Abstract
Systemic sclerosis (SSc) is an autoimmune disease characterized by inflammation and fibrosis of the skin and visceral organs. Fibrosis associated with SSc is characterized by an increased synthesis of a wide range of extracellular matrix (ECM). TGF-beta is a pluripotent cytokine in a wide range of cell types. In particular it has been found to be a potent inducer of ECM protein synthesis and fibroblast migration. The TGF-beta1 gene is highly polymorphic and two signal sequence polymorphisms at codon 10 and codon 25 are linked to disease outcomes. In this study, we analysed two polymorphic sites of the TGF-beta1 gene, codon 10 and codon 25, in 43 Turkish SSc female patients with interstitial lung involvement and in 75 healty individuals by ARMS-PCR. In our study no significant difference was found in codon 10, codon 25 genotype frequencies between patient with SSc and the control group (p = 0.676, 0.375, respectively). Our findings suggest that codon 10 and 25 polymorphism cannot be related with SSc for Turkish population. 2010 John Wiley & Sons, Ltd.
Yazan: admin Tarih: Tem 23rd, 2010 | Kategori::
Melanocortin-4 Receptor
Clin Appl Thromb Hemost. 2010 Jun 7.
Demiralp DO, Berberoglu M, Akar N.
Abstract
The most common Melanocortin-4 receptor (MC4R) missense variant Val103Ileu (rs2229616) is related to obesity. In this study, we examined the distribution of MC4R polymorphisms both in the clinical pediatric obese group and in the high/low-socioeconomic school group. 24 probable exogene obese children without family history (group I), 66 probable familial obese children (group II), and 111 complicated obese children (group III) were included. Groups I and II obese participants were gathered in a school-based epidemiologic study and compared with 49 apparently healthy non-obese controls. Significant difference in genotype distribution was observed between the groups I and II. Val 103 Ile polymorphism was more common among group III (4.5%). Furthermore, we detected Glu 42 Lys (18.18%) polymorphism in our population, which was not previously reported. Frequency of Val 103 Ile (A) allele polymorphism was 0.75 and 2.25; Glu 42 Lys A allele polymorphism was 9.0 and 1.5, in groups II and III, respectively. None of the MC4R mutations were found in high-socioeconomic school and in control groups. Our data indicated that MC4R polymorphisms were more frequent both in clinical pediatric obese group and in low-socioeconomic school group. In addition, our data revealed that carrying the polymorphism may increase the hereditary form of obesity.
Yazan: admin Tarih: Åžub 25th, 2010 | Kategori::
Multiple sclerosis
Akcali A, Pehlivan S, Pehlivan M, Sever T, Akgul P, Neyal M.
Department of Neurology, Gaziantep University School of Medicine, Gaziantep, Turkey.
Summary Dysregulation in the expression of pro- and anti-inflammatory cytokines is one of the milestones in multiple sclerosis (MS) development and progression. Tumour necrosis factor (TNF-alpha), a proinflammatory cytokine is believed to play an important role in MS pathogenesis. The objective of this study is to investigate the association between TNF-alpha promoter region (TNF-alpha-238, -308 and -857) and susceptibility to MS and clinical course of the disease. Eighty-six relapsing remitting MS patients and 150 sex-, age- and ethnic-matched controls were enrolled in the study. Genotyping was performed by PCR-RFLP method. We observed a statistically significant increase in TNF-alpha 857 CC genotype in MS patients than controls (P < 0.001) while TNF-alpha 857 CT genotype showed a significant negative correlation with MS patients (P = 0.033). No differences in the distribution of the TNF-alpha-238 and -308 alleles were observed. None of the three polymorphisms (-238, -308 and -857) did not show relation with disease duration, Expanded Disability Status Scale or age of onset. On the other hand, significant difference of TNF -857 CC genotype was identified with the low disease index (P = 0.025). Although the study group is small, the results indicate that TNF-alpha 857 CC genotype may cause susceptibility to MS in the Turkish population.
