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背景:SCN5A是目前报道最多的编码心肌钠离子通道的基因,SCN5A基因编码人心脏电压门控钠通道的α亚基,在人心肌细胞中高度表达,其主要负责动作电位的产生和兴奋细胞的扩展,对控制心肌细胞的兴奋传导起着关健作用。目的:研究SCN5A基因H588R,C5457T,R1193Q位点多态性与新疆地区维吾尔族单纯性先天性心脏病的相关性。方法:选取150例新疆维吾尔族单纯性先天性心脏病患者作为病例组,150例新疆维吾尔族健康人群作为对照组。采用聚合酶链式反应-限制性片段长度多态性分析技术和直接测序法对SCN5A基因H588R,C5457T,R1193Q位点进行多态性检测,分析不同基因型频率和等位基因频率在病例组和对照组中的分布。结果与结论:两组比较多态位点C5457T,R1193Q的基因型频率和等位基因频率差异均有显著性意义(P<0.05);多态位点H588R的基因型频率差异有显著性意义(P<0.05),而等位基因频率差异无显著性意义(P﹥0.05)。与对照组比较,C5457T位点在房间隔缺损和动脉导管未闭患者中等位基因频率分布差异有显著性意义(P<0.05),等位基因T分布增加房间隔缺损、动脉导管未闭的发病风险,OR值分别为3.636和3.467。R1193Q位点在房间隔缺损、法洛氏四联症和卵圆孔未闭患者中等位基因频率分布差异有显著性意义(P<0.05),等位基因A分布增加房间隔缺损、法洛氏四联症和卵圆孔未闭的发病风险,OR值分别为3.413,3.839和4.059。结果证实,SCN5A基因多态位点C5457T,R1193Q可能是新疆维吾尔族单纯性先天性心脏病的易感因子;未发现多态位点H558R与新疆维吾尔族单纯性先天性心脏病直接相关。
BACKGROUND: SCN5A is the most widely reported gene encoding cardiac sodium channel. The SCN5A gene encodes the alpha subunit of human cardiac voltage-gated sodium channel and is highly expressed in human cardiomyocytes. It is mainly responsible for the generation of action potentials and excitatory Extensions play a key role in controlling the excitability of cardiomyocytes. Objective: To investigate the association between polymorphisms of H588R, C5457T and R1193Q in SCN5A gene and simplex heart disease in Uygur in Xinjiang Uygur Autonomous Region. Methods: 150 cases of simple Uygur patients with congenital heart disease in Xinjiang were selected as the case group and 150 healthy Uigur people in Xinjiang as the control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing were used to detect the polymorphisms of SCN5A H588R, C5457T and R1193Q. The frequencies of different genotypes and alleles were analyzed in case group and Distribution in the control group. RESULTS AND CONCLUSION: The genotype frequency and allele frequency of C5457T and R1193Q were significantly different between the two groups (P <0.05). The genotype frequency of H588R polymorphism was significantly different (P < P <0.05), but no significant difference in allele frequency (P> 0.05). Compared with the control group, there was significant difference in allele frequency distribution between C5457T site and patients with patent ductus arteriosus (P <0.05). Allele T distribution increased atrial septal defect and patent ductus arteriosus Risk, OR values were 3.636 and 3.467 respectively. There was significant difference in allele frequency distribution between R1193Q in atrial septal defect, tetralogy of Fallot and patients with patent foramen ovale (P <0.05), allele A distribution increased atrial septal defect, The incidence of tetralogy of Fallot and foramen ovale were 3.413, 3.839 and 4.059, respectively. The results confirmed that SCN5A polymorphic sites C5457T, R1193Q may be simple Uygur in Xinjiang Uygur susceptibility factor for congenital heart disease; no polymorphism site H558R and Xinjiang Uygur simple congenital heart disease is directly related.