首页> 外文期刊>Romanian Journal of Laboratory Medicine >TNF-α Gene Polymorphisms and Primary Open Angle Glaucoma in Romanian Population / Polimorfisme ale genei TNF-α ?n popula?ia roman? cu glaucom primar cu unghi deschis
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TNF-α Gene Polymorphisms and Primary Open Angle Glaucoma in Romanian Population / Polimorfisme ale genei TNF-α ?n popula?ia roman? cu glaucom primar cu unghi deschis

机译:罗马尼亚人群中的TNF-α基因多态性和原发性开角型青光眼/罗马尼亚人群中的TNF-α基因多态性?开角型原发性青光眼

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Primary open-angle glaucoma (POAG) represents the most common form of a heterogeneous group of glaucomatous optic neuropathies which are a worldwide cause of irreversible blindness. Immune dysregulation and the genetic background are considered important risk factors. The influence on susceptibility to POAG of single nucleotide polymorphisms (SNPs) of tumor necrosis factor-α (TNF-α) was intensively studied, mostly on Asian population. We investigated the possible association of two TNF-α SNPs (-308G/A and -857C/T) with susceptibility to POAG and its clinical characteristics. A case-control association study of aforementioned TNF-α SNPs was performed on 197 POAG patients (divided into two subgroups: high-tension and normal-tension glaucoma - HTG/ NTG) versus 208 ethnically matched controls. This is the first study performed on Romanian population. No significant differences were found in terms of allelic frequencies, genotype distribution of the studied SNPs, or their haplotypes between POAG and healthy control groups. In the subgroup analysis, TT genotype of TNF-α -857T-allele was found to be associated with higher values of central corneal thickness (CCT) in NTG subgroup (p-value 0.032). In order to confirm the association between -857C/T SNP of TNF-α and CCT in NTG subgroup of POAG patients, additional studies on different populations should be performed.
机译:原发性开角型青光眼(POAG)代表了一组异质性青光眼性视神经病变的最常见形式,这是世界范围内不可逆性失明的原因。免疫失调和遗传背景被认为是重要的危险因素。深入研究了肿瘤坏死因子-α(TNF-α)单核苷酸多态性(SNPs)对POAG敏感性的影响,主要针对亚洲人群。我们调查了两种TNF-αSNPs(-308G / A和-857C / T)与对POAG的敏感性及其临床特征的可能联系。对197名POAG患者(分为两个亚组:高血压和正常血压青光眼-HTG / NTG)与208名种族相匹配的对照组进行了上述TNF-αSNP病例对照研究。这是对罗马尼亚人口进行的第一项研究。在POAG与健康对照组之间,在等位基因频率,研究的SNP的基因型分布或其单倍型方面未发现显着差异。在亚组分析中,发现TNF-α-857T等位基因的TT基因型与NTG亚组中较高的中央角膜厚度(CCT)值相关(p值0.032)。为了确定POAG患者NTG亚组中TNF-α的-857C / T SNP与CCT之间的相关性,应针对不同人群进行其他研究。

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