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首页> 外文期刊>Archives of Biological Sciences >GENETIC CLUES TO THE ETIOLOGY OF BALKAN ENDEMIC NEPHROPATHY: INVESTIGATING THE ROLE OF ACE AND AT1R POLYMORPHISMS
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GENETIC CLUES TO THE ETIOLOGY OF BALKAN ENDEMIC NEPHROPATHY: INVESTIGATING THE ROLE OF ACE AND AT1R POLYMORPHISMS

机译:巴尔干地方性肾病病因的遗传学线索:研究ACE和AT1R多态性的作用

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Balkan endemic nephropathy (BEN) was recognized as a distinct entity more than 50 years ago, but the exact environmental and genetic causes of the disease remain elusive. Considering the role of the renin-angiotensin system (RAS) in the emergence of various nephropathies, in the present study we evaluated the possible association with BEN of polymorphisms in two RAS genes: I/D ACE (an angiotensin-converting enzyme) and A1166C AT1R (an angiotensin type 1 receptor). The study groups consisted of 48 BEN patients from the endemic region in the district of Kolubara, Serbia, 33 patients with other nephropathies and 42 healthy individuals. The ACE DD genotype was significantly more represented in the NBEN group (OR=5.447; 95%CI=1.862-15.932, p<0.01). The frequency of the AT1R CC genotype was higher in BEN patients compared to controls (0.104 vs. 0.048), but the difference was not significant. Though the analyzed polymorphisms are associated with certain nephropathies, we found no support for their specific role in BEN susceptibility.
机译:巴尔干地方性肾病(BEN)于50年前被认为是一种独特的个体,但是该疾病的确切环境和遗传原因仍然难以捉摸。考虑到肾素-血管紧张素系统(RAS)在各种肾病的发生中的作用,在本研究中,我们评估了两个RAS基因:I / D ACE(血管紧张素转化酶)和A1166C与多态性与BEN的可能关联AT1R(1型血管紧张素受体)。研究组包括来自塞尔维亚Kolubara地方病区的48位BEN患者,33位其他肾病患者和42位健康个体。在NBEN组中,ACE DD基因型显着增加(OR = 5.447; 95%CI = 1.862-15.932,p <0.01)。与对照组相比,BEN患者的AT1R CC基因型频率更高(0.104对0.048),但差异不显着。尽管分析的多态性与某些肾病有关,但我们没有发现它们在BEN易感性中的特殊作用。

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