【摘要】 目的通过研究转移生长因子β2(TGFβ2)基因单核苷酸多态性与持续性心房颤动(AF)的相关性,探讨AF的免疫遗传学发病机制。方法从外周血中提取DNA,采用聚合酶链扩增反应-限制性片段长度多态性技术检测90例西南地区人群AF患者及90例健康对照者TGFβ2基因一个单核苷酸标签位点(rs6658835)多态性。用检验比较病例组与对照组之间基因型频率和等位基因频率的统计学差异。结果 AF组与对照组基因型分布均符合Hardy-Weinberg平衡。与正常对照组相比,AF患者组TGFβ2基因标签位点(rs6658835)GG+AG基因型和G等位基因频率明显增加,差异有统计学意义(分别为83.4%vs.65.6%和60.6%vs.41.7%,P均<0.05)。结论本研究发现TGFβ2基因rs6658835位点单核苷酸多态性与西南地区人群AF相关。TGFβ2基因多态性可能在AF遗传易感性方面具有重要作用。更多还原

【Abstract】 Objective To investigate the association of the single nucleotide polymorphism( SNP) of transforming growth factor β2( TGFβ2) gene and Persistent atrial fibrillation( AF) and to explore genetic mechanism of AF caused possibly by TGFβ2 gene polymorphism. Methods The sample DNA was extracted from peripheral blood of AF patients in the population of Southwestern China( n = 90) and normal control group( n = 90). The SNP of TGFβ2 gene at one tag position( rs6658835) was determined by using the analysis techniques of Polymerase Chain Reaction-Restriction Fragment Length Polymorphism( PCR-RFLP) 。The genotype frequencies and the allele frequencies of SNP were compared with test in two groups. Results Genotype distributions had no deviation from Hardy-Weinberg equilibrium both in AF patients and control subjects. Compared with controls,the frequency of GG and AG genotypes( 83. 4% vs. 65. 6%,P<0. 05) and the frequency of G allele( 60. 6% vs. 41. 7%,P<0. 05) of the SNP at the tag position( rs6658835) are apparently increased in AF patients. There was significant difference in the frequency distribution of genotype and allele in rs6658835 between two groups. Conclusion Our study find SNP rs6658835 in TGFβ2 gene has association with AF in the population of Southwestern China. TGFβ2 gene polymorphisms may play an important role in the susceptibility of AF.更多还原