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首页> 外文期刊>Circulation journal >Additive effect of ANRIL and BRAP polymorphisms on ankle-brachial index in a Taiwanese population
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Additive effect of ANRIL and BRAP polymorphisms on ankle-brachial index in a Taiwanese population

机译：台湾人群中ANRIL和BRAP多态性对踝臂指数的累加作用

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Background: Genetic variations on chromosome 9p21 have been found to be associated with peripheral artery disease (PAD), but have not been investigated in Asians. The ankle-brachial index (ABI) is a widely-used measurement for PAD. We previously reported the BRAP gene is associated with the ABI, so the aim of the present study was to test whether the ANRIL gene on 9p21 is associated with the ABI and to test an interaction between BRAP and ANRIL in a Chinese population. Methods and Results: A total of 745 subjects with a family history of myocardial infarction or stroke were enrolled. The multiplicative and additive effects of 2 significant single-nucleotide polymorphisms (SNPs) were evaluated by multivariable regression analysis. SNP rs2383207 on ANRIL was most significantly associated with lower ABI. Similar to our previous findings, SNP rs11066001 on BRAP was associated with lower ABI. A dose-response relationship between ABI values and the number of risk alleles from the 2 significant SNPs was observed in both men and women (adjusted P=0.004 for men, 0.008 for women). The combined genetic effect on ABI was stronger in smokers than in non-smokers. Conclusions: ANRIL on 9p21 and BRAP were both associated with ABI in a Taiwanese population. An additive effect between variants of these 2 genes was found. The finding of a potential gene-gene interaction and geneenvironment interaction is interesting, but needs further investigation.
机译：背景：已经发现9p21号染色体的遗传变异与外周动脉疾病（PAD）有关，但尚未在亚洲人中进行调查。踝肱指数（ABI）是PAD广泛使用的测量方法。我们之前曾报道过BRAP基因与ABI相关，因此本研究的目的是测试9p21上的ANRIL基因是否与ABI相关联，并测试BRAP与ANRIL在中国人群中的相互作用。方法和结果：共有745名具有心肌梗塞或中风家族史的受试者入选。通过多变量回归分析评估了2个重要的单核苷酸多态性（SNP）的相乘和相加作用。 ANRIL上的SNP rs2383207与较低的ABI最相关。与我们之前的发现相似，BRAP上的SNP rs11066001与较低的ABI相关。在男性和女性中均观察到ABI值与2个重要SNP的风险等位基因数量之间的剂量反应关系（男性P = 0.004，女性P = 0.008）。吸烟者对ABI的综合遗传效应要比不吸烟者强。结论：台湾人群中9p21的ANRIL和BRAP均与ABI相关。发现了这两个基因的变体之间的累加效应。潜在的基因-基因相互作用和基因环境相互作用的发现很有趣，但需要进一步研究。

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