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:: Kategorilenmemiş

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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