Alasehirli Belgin, Balat Ayse, Barlas Omer, Kont Aylin
Department of Pharmacology, Medical Faculty, Gaziantep University, Gaziantep, Turkey.
Pediatr Int. 2009 Feb;51(1):75-8. doi: 10.1111/j.1442-200X.2008.02655.x.
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).
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.
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.
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.
一氧化氮(NO)可减弱肾脏内的多种功能,且所有一氧化氮合酶(NOS)亚型均在肾脏中组成性表达。但NO在肾脏疾病中的确切作用仍存在争议。本研究旨在调查微小病变肾病综合征(MCNS)患儿的内皮型(eNOS)和神经元型(nNOS)NOS基因多态性。
将86名年龄在2至10岁之间、患有临床MCNS的土耳其儿童与114名年龄和性别相匹配的健康对照进行比较。使用聚合酶链反应对eNOS的Glu 298 Asp(G/T)多态性和nNOS基因的C276T(C/T)多态性进行基因分型。
MCNS中eNOS的GG、TG和TT基因型分布分别为52%、33%和15%,而对照组中分别为61%、26%和13%(P>0.05)。MCNS中nNOS的CC、TC和TT基因型分布分别为16%、66%和18%,对照组中分别为10%、43%和47%。发现患者中nNOS的TT基因型分布较低(P=0.003)。eNOS和nNOS基因多态性与性别、阳性家族史、复发频率或对类固醇的反应无关。
本研究首次调查了MCNS患儿的eNOS和nNOS基因多态性。nNOS基因多态性可能与儿童MCNS有关,但需要在更大规模的不同肾小球疾病人群中进行进一步研究以证实结果。