rs2200733和rs251253多态性与心房颤动的关联性研究

Association of rs2200733 and rs251253 polymorphism with atrial fibrillation

摘要:

目的：探讨rs2200733和rs251253多态性与心房颤动（Atrial fibrillation，AF）简称房颤，发生的关联性。方法：根据入选标准，选择房颤患者100例（房颤组）和非房颤患者107例（对照组）进行rs2200733和rs251253单核苷酸多态性和房颤的关联研究。所有患者均采集外周血提取基因组DNA，采用聚合酶链反应-限制性片段长度多态性技术检测患者rs2200733和rs251253多态性的基因型和等位基因分布。结果：rs2200733位点在病例组中存在多态性，分别为TT、CT和CC 型，其基因型频率在AF组和对照组分别依次为21.0%、65.0%、14.0%和29.0%、46.7%、24.3%。基因型分布在房颤组和对照组间有显著差异（P=0.027），CT基因型频率在AF组明显高于对照组（P=0.032）。C等位基因频率和T等位基因频率在两组间的分布无显著差异（P>0.05）。rs251253位点GG、AG和AA的基因型频率在AF组和对照组分别依次为70.0%、28.0%、2.0%和70.1%、25.2%、4.7%，基因型分布、G等位基因频率和A等位基因频率在房颤组和对照组间均无显著差异（P>0.05）。结论：rs2200733位点多态性与房颤发生存在相关性，CT基因型可能是房颤患者的一个遗传易感因素。

Abstract:

Objective：To investigate the association of rs2200733 and rs251253 polymorphisms with atrial fibrillation（AF）. Methods：We performed an association study between rs2200733 and rs251253 single nucleotide polymorphisms （SNPs） and atrial fibrillation. According to inclusion criteria，we enrolled 100 patients with AF，and the control group consisted of 107 patients without AF. Genomic DNA was extracted from blood samples of all patients using a TIANamp blood DNA kit according to the standard proto－col. The single nucleotide polymorphisms of rs2200733 and rs251253 were genotyped by polymerase chain reaction-restriction frag－ment length polymorphism（PCR-RFLP） analysis. Results：There was rs2200733 polymorphism in the case group.The frequencies of the three kinds of genotypes（TT，CT，CC） in AF group and control group were 21.0%，65.0%，14.0%；and 29.0%，46.7%，24.3%，re－spectively. The distribution of genotypes in AF group and control group had significant difference（P=0.027），with the frequency of CT genotype significantly higher in AF group than in control group（P=0.032）. No significant difference in the distributions of C and T al－lele frequencies was observed between two groups（P>0.05）. There was also rs251253 polymorphism in the case group. The frequen－cies of the three kinds of genotypes（GG，AG，AA） in AF group and control group were 70.0%，28.0%，2.0%；and 70.1%，25.2%，4.7%，respectively. There was no significant difference in distribution of genotypes and G and Aallele frequencies between two groups（P>0.05）. Conclusion：Polymorphism of rs2200733 may be associated with the risk of AF，and CT genotype may be a susceptible genet－ic factor for patients with atrial fibrillation.