E-cadherin gene 3′-UTR C/T polymorphism in Turkish patients with nephrolithiasis.

Yazan: admin Tarih: Oca 25th, 2011 | Kategori:: E-cadherin, nephrolithiasis

Mol Biol Rep. 2010 Dec 14.

Yilmaz A, Menevse S, Onaran M, Sen I, Ergun MA, Camtosun A, Kupeli B, Bozkirli I.

Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, Ankara, 06500, Turkey.

Abstract

Nephrolithiasis is a complex disease and many gene polymorphisms have been associated with stone formation. In this study we aimed to investigate another possible relationship between E-cadherin gene (CHD1) 3′-UTR C/T polymorphism and calcium oxalate nephrolithiasis in the Turkish population. Study population was composed of 143 patients with nephrolithiasis and 158 control subjects. CHD1 3′-UTR C/T polymorphism was analysed using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique. Genotype distribution of the investigated polymorphism was not deviated from Hardy-Weinberg equilibrium (HWE) in patients and control subjects (P > 0.05). C allele frequency was 85.7 and 85.1% in patients and controls, respectively (P = 0.836). Genotype distributions of the CHD1 3′-UTR C/T polymorphism among patients were also not significantly different from those among control subjects (P = 0.636). Our results showed that there is no association between the CHD1 gene 3′-UTR C/T polymorphism and nephrolithiasis in our population.


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Genetic Polymorphisms of Sulfotransferases (SULT1A1 and SULT1A2) in a Turkish Population.

Yazan: admin Tarih: Kas 30th, 2010 | Kategori:: SULT1A1, SULT1A2, Sulfotransferases

Biochem Genet. 2010 Dec;48(11-12):987-94. Arslan S.

Department of Molecular Biology and Genetics, Faculty of Science and Literature, Cumhuriyet University, 58140, Sivas, Turkey, arserdal@yahoo.com.

Abstract

Sulfotransferases (SULTs) play a significant role in the biotransformation of a variety of xenobiotics and endogenous compounds. SULTs are genetically polymorphic enzymes; to date, 12 human cytosolic SULT isoforms have been identified. This study investigated SULT1A1 and SULT1A2 gene polymorphism using a PCR-RFLP method (n = 303). The frequency of the SULT1A1*1 allele was 76.2% and SULT1A1*2 was 23.8%. The SULT1A1*3 allele could not be identified. The SULT1A2 frequencies were 69.2% (SULT1A2*1), 18.3% (SULT1A2*2), and 12.5% (SULT1A2*3). The SULT1A1 and SULT1A2 loci were in Hardy-Weinberg equilibrium (SULT1A1 χ(2) = 0.58, P = 0.44; SULT1A2 χ(2) = 7.28, P = 0.06). Linkage analysis indicated a close linkage between these two genes (χ(2) = 5.31, P < 0.01); therefore, the statistical hypothesis that SULT1A1 and SULT1A2 alleles are independently distributed was rejected. Additionally, a strongly positive linkage was detected between SULT1A1*2 and SULT1A2*2 alleles in this population (D’ = 0.79, χ(2) = 33.33).


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Analysis of transforming growth factor beta 1 (TGF-beta1) gene polymorphisms in Turkish patients with scleroderma.

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.


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Analysis of paraoxonase 1 (PON1) genetic polymorphisms and activities as risk factors for ischemic stroke in Turkish population

Yazan: admin Tarih: Oca 21st, 2010 | Kategori:: Paraoxonase

Author(s): Demirdogen BC (Demirdogen, Birsen Can)1, Demirkaya S (Demirkaya, Seref)2, Turkanoglu A (Turkanoglu, Aysun)1, Bek S (Bek, Semai)2, Arinc E (Arinc, Emel)1, Adali O (Adali, Orhan)1
Source: CELL BIOCHEMISTRY AND FUNCTION Volume: 27 Issue: 8 Pages: 558-567 Published: DEC 2009

Abstract: Background Paraoxonase 1 (PON1) is protective against the development of atherosclerosis. a risk factor for ischemic stroke. PON1 gene has one promoter region (-107T/C) and two coding region (192Q/R and 55L/M) polymorphisms that affect the levels and catalytic efficiency of the enzyme. respectively. In this study. we aimed to determine the importance of -107T/C. 192Q/R and 55L/M polymorphisms of PON1 gene and three PON1 activity (diazoxonase, paraoxonase, arylesterase) as risk factors for ischemic stroke
Methods Stud population was comprised of 172 unrelated adult Caucasian patients with acute hemispheric ischemic stroke and 105 symptom-free controls. Genotypes were attained by PCR followed by restriction enzyme digestion and phenotypes were determined by spectrophotometric assays.

Results This is the first study analyzing diazoxonase activity as a risk factor for ischemic stroke Nevertheless, diazoxonase, paraoxonase and arylesterase activities were almost the manic in stroke patients and controls The 107TT genotype was associated with a 1 97 times increased risk for stroke in elderly (age > 59). Individuals with this genotype were found to have the lowest PON1 enzyme activities among the -107T/C genotypes Triple combined haplotype QRLMTC was found to be 6.94- and 10.4-times protective against ischemic stroke in the overall and the elderly Population. respectively. 55LL genotype was associated with 1 78-fold increase in the risk of ischemic stroke

Conclusion PON1 genotypes, but not activities, are related with the risk of stroke. Copyright (C) 2009 John Wiley & Sons, Ltd

Document Type: Article
Language: English
Author Keywords: genotype; paraoxonase; PON1; polymorphism; stroke
KeyWords Plus: HUMAN-SERUM PARAOXONASE; LOW-DENSITY-LIPOPROTEIN; INTIMA-MEDIA THICKNESS; LIPID-PEROXIDATION; LDL OXIDATION; ARYLESTERASE; PROMOTER; PROTEIN; ATHEROSCLEROSIS; CHOLESTEROL
Reprint Address: Demirdogen, BC (reprint author), Refik Saydam Natl Publ Hlth Agcy, Directorate Food Safety & Nutr Res, Ankara, Turkey
Addresses:
1. Middle E Tech Univ, Dept Biochem, Inst Nat & Appl Sci, TR-06531 Ankara, Turkey
2. Gulhane Mil Med Acad, Dept Neurol, Ankara, Turkey


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