Association between a Single Nucleotide Polymorphism in the 3'-UTR of ARHGEF18 and the Risk of Nonidiopathic Pulmonary Arterial Hypertension in Chinese Population.
Association between a Single Nucleotide Polymorphism in the 3'-UTR of ARHGEF18 and the Risk of Nonidiopathic Pulmonary Arterial Hypertension in Chinese Population.
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DOI：
10.1155/2018/2461845
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发表时间：
2018
期刊：
影响因子：
--
通讯作者：
Chen P
中科院分区：
文献类型：
--
作者：
Li D;Sun Y;Kong X;Luan C;Yu Y;Chen F;Chen P
ARHGEF 18已被确定为在由缺氧或野百合碱（MCT）引入的肺动脉高压大鼠模型的肺组织中上调。我们使用在线SNP功能预测工具来筛选可能与ARHGEF18表达调控相关的候选SNP。结果提示，位于ARHGEF18基因3′端非翻译区的rs3745357可能是该过程中的一个遗传修饰因子。本研究旨在探讨ARHGEF18基因rs3745357多态性与非特发性肺动脉高压易感性（niPAH）的关系。共有293名参与者被纳入病例对照研究（117名患者和176名健康对照）。rs3745357变异体通过使用切割扩增多态性（CAP）序列标记位点技术进行鉴别。尽管niPAH患者rs3745357的总体等位基因和基因型频率与对照组接近，但当我们将niPAH患者进一步分为有或无冠心病（CHD）亚组时，发现了显著差异。与对照受试者相比，无CHD病史的niPAH患者的Rs3745357 C等位基因频率显著较高（p = 0.001），而有CHD病史的niPAH患者的频率显著较低（p = 0.017）。基因型频率分布也有很大差异。经性别和年龄调整后，有冠心病史的患者与对照组之间差异有统计学意义。结果表明，ARHGEF18 rs3745357变异体可用作niPAH遗传易感性的标记。
ARHGEF18 has been identified as upregulated in the lung tissues of rat models of pulmonary artery hypertension introduced by hypoxia or monocrotaline (MCT). We used online SNP function prediction tools to screen the candidate SNPs that might be associated with the regulation of the ARHGEF18 expression. The result suggested that rs3745357 located in the 3′-untranslated region of ARHGEF18 is probably a genetic modifier in the process. In the present study, we aimed to investigate the association between ARHGEF18 rs3745357 polymorphism and nonidiopathic pulmonary arterial hypertension susceptibility (niPAH). A total of 293 participants were included in the case-control study (117 patients and 176 healthy controls). The rs3745357 variant was discriminated by using cleaved amplification polymorphism (CAP) sequence-tagged site technology. Although the overall allele and genotype frequencies of rs3745357 in niPAH patients were close to those of the control group, significant differences have been identified when we further divided the niPAH patients into subgroups with or without coronary heart disease (CHD). Rs3745357 C allele frequency was significantly higher in niPAH patients without CHD history (p = 0.001), while the frequency was significantly lower in niPAH patients with CHD history (p = 0.017) when compared to control subjects. The distribution of genotype frequencies was also quite different. After adjustment by gender and age, significant differences were found between patients with CHD history and controls. The results suggest that the ARHGEF18 rs3745357 variant may be used as a marker for the genetic susceptibility to niPAH.
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DOI：
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