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
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: Tem 23rd, 2010 | Kategori::
Gene polymorphisms
Scand J Urol Nephrol. 2010 Jul 5.
Igci M, Arslan A, Igci YZ, Gogebakan B, Erturhan MS, Cengiz B, Oztuzcu S, Cakmak EA, Demiryurek AT.
Department of Medical Biology.
Abstract
Abstract Objective. Bikunin is an inhibitor of kidney stone formation synthesized in the liver together with alpha(1)-microglobulin from the alpha(1)-microglobulin/bikunin precursor (AMBP) gene. The aim of this study was to investigate the possible association between bikunin/AMBP gene polymorphisms and urinary stone formation. Material and methods. To analyse the DNA, blood samples were taken from 75 kidney stone formers who had a familial stone history, 35 sporadic stone formers and 101 healthy individuals. Four exons of bikunin gene and five parts of the promoter region of the AMBP gene were screened using single-strand conformation polymorphism and nucleotide sequence analysis. Results. The Init-2 region of the promoter of AMBP gene had polymorphisms at positions -218 and -189 nt giving three different genotypes having 1,3, 2,4 and 1,2,3,4 alleles with frequencies of 17.06%, 60.19% and 22.75%, respectively, in all groups. Therefore, the Init-2 region appears to be polymorphic. As a result, the 1,3 allele has -218G and -189T complying with the reference database sequence, the 2,4 allele has -218G and T-189C substitution and the allele 1,2,3,4 genotype has substitutions at positions G-218C and T-189C. Conclusions. There were no significant differences in allele distribution between patients and controls. These common alleles exist in the Turkish population independent of stone formation. These results are the first to demonstrate the existence of bikunin and AMBP promoter polymorphism. Although the Init-2 region of the AMBP gene is the binding site for various transcription factors, the results showed no association between these observed genotypes and stone-forming phenotypes.
