Nisan 2009 için arsiv

Nitric oxide synthase gene polymorphisms in children with minimal change nephrotic syndrome.

Yazan: admin Tarih: Nis 29th, 2009 | Kategori:: Nitric oxide synthase

Pediatr Int. 2009 Feb;51(1):75-8.

Alasehirli B, Balat A, Barlas O, Kont A.

Department of Pharmacology, Medical Faculty, Gaziantep University, Gaziantep, Turkey.

AIMS: Nitric oxide (NO) attenuates many functions within the kidney, and all NO synthase (NOS) isoforms are constitutively expressed in the kidney. But the exact role of NO in renal diseases is still debatable. The aim of the present study was to investigate endothelial (eNOS), and neuronal (nNOS) NOS gene polymorphisms in children with minimal change nephrotic syndrome (MCNS). MATERIALS AND METHODS: Eighty-six Turkish children with clinical MCNS, ranging in age from 2 to 10 years, were compared with 114 healthy age- and sex-matched controls. The glu 298 Asp (G/T) polymorphism of the eNOS, and C276T (C/T) polymorphism of nNOS genes were genotyped using polymerase chain reaction. RESULTS: The distribution of GG, TG, and TT genotypes for eNOS was 52%, 33% and 15% in MCNS compared with 61%, 26% and 13% in the controls (P > 0.05). The distribution of CC, TC, and TT genotypes for nNOS was 16%, 66% and 18% in MCNS compared with 10%, 43% and 47% in the controls. TT genotype distribution of nNOS was found to be lower in patients (P = 0.003). The eNOS and nNOS gene polymorphisms were not associated with gender, positive family history, frequency of relapses, or response to steroid. CONCLUSIONS: The present study is the first to investigate eNOS and nNOS gene polymorphisms in children with MCNS. The nNOS gene polymorphism may be associated with MCNS in children, but further studies in a larger population with different glomerular diseases are needed to confirm the results.


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Prevalence of the Angiotensin I Converting Enzyme Gene Insertion/Deletion Polymorphism in a Healthy Turkish Population.

Yazan: admin Tarih: Nis 29th, 2009 | Kategori:: KategorilenmemiÅŸ

Biochem Genet. 2009 Apr 24.

Berdeli A, Cam FS.

Molecular Medicine Laboratory, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

Angiotensin converting enzyme (ACE) plays an essential role in the renin-angiotensin system. It converts angiotensin I to angiotensin II and inactivates bradykinin and tachykinins. Numerous studies have been published investigating associations of the ACE gene I/D polymorphism with various pathophysiological conditions. We examined the prevalence of the ACE I/D polymorphism in a sample of healthy volunteers from western Turkey, including 1063 healthy Turkish controls. Analysis of the ACE I/D gene polymorphisms by polymerase chain reaction found frequencies of 16.1% for the II genotype, 47.7% for the ID genotype, and 36.2% for the DD genotype. The allele frequency was 39.9% for the I alleles and 60.1% for the D allele. This study demonstrates that the allele and genotype frequency values for the Turkish population are similar to previously published frequencies for Caucasian populations.


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FcγRIIIa-V/F 158 polymorphism in Turkish children with asthma bronchiale and allergic rhinitis

Yazan: admin Tarih: Nis 22nd, 2009 | Kategori:: KategorilenmemiÅŸ
Dost Zeyrek 1 , Remziye Tanac 1 , Serdar Altinoz 1 , Afig Berdeli 2 , Figen Gulen 1 , Huseyin Koksoy 1 and Esen Demir 1

  1 Department of Pediatric Allergy and Pulmonology, Aegean University ,   2 Molecular Research Laboratory, Aegean University, Izmir, Turkey
Correspondence to Dost Zeyrek, Department of Pediatric Allergy and Pulmonology, Aegean University, Cocuk Klinigi Izmir, Bornova 35100, Izmir, Turkey
Tel.: +903903500
E-mail: dost.zeyrek@ege.edu.tr
Copyright 2008 The Authors Journal compilation 2008 Blackwell Munksgaard
KEYWORDS
FcRγIIIa gene polymorphism • bronchial asthma • allergic rhinitis • children
Zeyrek D, Tanac R, Altinoz S, Berdeli A, Gulen F, Koksoy H, Demir E. FcγRIIIa-V/F 158 polymorphism in Turkish children with asthma bronchiale and allergic rhinitis.
Pediatr Allergy Immunol 2008: 19: 20–24.
© 2008 The Authors
Journal compilation © 2008 Blackwell Munksgaard

ABSTRACT

Fc receptors (FcR) play an important role in immune regulation. This might be linked to the variability in immune response, therefore relating to the pathogenesis of atopic diseases. The aim of the present study was to evaluate the FcγRIIIa gene polymorphism in Turkish children with asthma and allergic rhinitis. The study included 364 atopic children (184 bronchial asthma, 180 allergic rhinitis) and 234 healthy subjects as the control group, aged between 5 to 16 years. Patients were recruited from outpatient clinics of allergy and general pediatric care. Plasma IgE concentrations were measured by immunoassays and skin prick test was done in children with atopic diseases. The FcγRIIIa gene polymorphism was determined using the polymerase chain reaction method. Distribution of V158V genotype was significantly different among patient groups compared to controls (for asthmatic children OR: 5.33, 95% CI: 2.80–10.23, p < 0.001; for allergic rhinitis OR: 3.25, 95% CI: 1.75–6.07, p = 0.001). Distribution of 158 V allele was significantly different among asthmatic children (OR: 2.20, 95% CI: 1.65–2.92, p < 0.001) and allergic rhinitis patients (OR: 1.77, 95% CI: 1.32–2.35, p < 0.001) compared to healthy controls. Our study shows that the V158V genotype in FcγRIIIa gene polymorphism may be a genetic risk factor for the development of atopic diseases.

Accepted 13 January 2007

DIGITAL OBJECT IDENTIFIER (DOI)

10.1111/j.1399-3038.2007.00553.x About DOI


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I405V and TaqIB polymorphisms of the cholesteryl ester transfer protein and their relation to serum lipid and lipoprotein levels in a Turkish population

Yazan: admin Tarih: Nis 22nd, 2009 | Kategori:: KategorilenmemiÅŸ

Semra Doru-Abbasolu 1 *, Hande Parldar-Karpuzolu 1, Bilge Depboylu 1, Naci Çine 2, Müjdat Uysal 1, Gülçin Aykaç-Toker 1
1Department of Biochemistry, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
2Department of Medical Genetics, Kocaeli University Faculty of Medicine, Kocaeli, Turkey
 
email: Semra Doru-Abbasolu (sdabbasoglu@yahoo.com)

*Correspondence to Semra Doru-Abbasolu, Department of Biochemistry, Istanbul Medical Faculty, Istanbul University, Çapa 34093, Istanbul, Turkey.

Keywords
cholesteryl ester transfer protein (CETP) • genetic polymorphism • TaqIB • I405V
Abstract
Cholesteryl ester transfer protein (CETP) plays a central role in high-density lipoprotein (HDL) metabolism. Genetic polymorphisms of the CETP gene can influence levels of serum lipoproteins. It has been reported that mean HDL-cholesterol (HDL-C) concentrations are low in Turkish population. Thus, we investigated the frequencies of the common I405V and TaqIB polymorphisms of the CETP gene and their relation to serum lipid and lipoprotein levels in a Turkish population. The variant allele frequencies of I405V and TaqIB polymorphisms of the CETP gene were found to be 0.38 and 0.46, respectively and similar to some of the European populations. Subjects for the VV genotype of I405V polymorphism had higher HDL-C levels than did II subjects. The covariance analysis showed that gender and triglyceride (TG) levels have an effect on the association of HDL-C and I405V polymorphism. In conclusion, our results indicate that I405V polymorphism may affect the HDL-C levels in Turkish population. The association of this polymorphism and HDL-C levels could be modified by other factors, such as gender and TG levels. Copyright © 2009 John Wiley & Sons, Ltd.

 

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Received: 6 November 2008; Accepted: 17 November 2008
Digital Object Identifier (DOI)

10.1002/cbf.1536  About DOI


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