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Impact of thrombospondin-2 gene variations on the risk of thoracic aortic dissection in a Chinese Han population

机译:血小板反应蛋白-2基因变异对中国汉族人群胸主动脉夹层风险的影响

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摘要

Objective: Genetic factors play an important role in thoracic aortic dissection (TAD) etiology and thrombospondin-2 gene (THBS2) polymorphisms may be involved. This study tried to examine the single-nucleotide polymorphisms (SNP) rs8089 of THBS2 for their association with TAD susceptibility in Chinese Han population. Methods: The rs8089 SNP of THBS2 was genotyped in 112 subjects who were diagnosed as TAD and in 184 age- and gender-matched matched controls. Results: The THBS2 rs8089 SNP was associated with increased TAD susceptibility for allele level comparison (P < 0.0001), and for dominant model (P = 0.0073) or extreme genotype model (P = 0.0459) in Chinese Han Population. But for the recessive model, no statistical difference was found (P = 0.099), which may be resulted from the relatively small sample size and low genotype frequency. Conclusion: In conclusion, the present study suggested that the THBS2 rs8089 variant was associated with TAD, with the G allele representing a risk factor in a Chinese Han population.
机译:目的:遗传因素在胸主动脉夹层(TAD)病因中起重要作用,并可能与血小板反应蛋白2基因(THBS2)多态性有关。这项研究试图检查THBS2的单核苷酸多态性(SNP)rs8089与中国汉族人群TAD易感性的关系。方法:对112名被诊断为TAD的受试者和184名年龄和性别匹配的对照者进行THBS2的rs8089 SNP基因分型。结果:在中国汉族人群中,THBS2 rs8089 SNP与等位基因水平比较(P <0.0001),显性模型(P = 0.0073)或极端基因型模型(P = 0.0459)的TAD敏感性增加有关。但是对于隐性模型,没有发现统计学差异(P = 0.099),这可能是由于样本量相对较小且基因型频率较低所致。结论:总之,本研究表明,THBS2 rs8089变体与TAD相关,G等位基因代表中国汉族人群的危险因素。

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