24个单核苷酸多态性位点与皖北地区布加综合征相关性研究

目的探讨24个相关基因单核苷酸多态性(SNPs)位点与皖北地区布加综合征(BCS)的关系,为BCS的诊断和针对性治疗提供新依据。方法选取2017年2月至2019年6月蚌埠医学院第一附属医院收治的80例BCS患者(BCS组),另选取同期80例健康体检者(对照组),静脉血提取DNA,应用Agena MassARRAY SNP结合多重PCR技术、MassARRAY iPLEX单碱基延伸技术和基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)技术通过检测延伸产物相对分子量对21个基因中24个SNPs进行分型检测,分析各基因型、等位基因的差异表达。结果其中6个SNPs位点统计结果不符合Hardy-Weinberg平衡;18个SNPs位点基因型频率分布在BCS组及对照组间差异无统计学意义。BCS组MTHFR C677T(rs1801133)基因位点A等位基因频率高于对照组(OR=2.769,95%CI:1.171~4.465,P=0.004)。结论MTHFR C677T(rs1801133)基因位点A等位基因可能是皖北地区BCS的危险因素。

Study on the relationship between 24 single nucleotide polymorphisms and Budd-Chiari syndrome in northern Anhui province

Objective To explore the relationship between 24 related gene single nucleotide polymorphisms(SNPs)and Budd-Chiari syndrome(BCS)in northern Anhui Province,and to provide a new basis for BCS genetic diagnosis and targeted treatment.Methods 80 patients with Budd-Chiari syndrome(BCS group)and 80 healthy controls(control group)were selected from the First Affiliated Hospital of Bengbu Medical College from February 2017 to June 2019.Venous blood was taken to extract DNA.Agena MassARRAY SNP combined with multiplex PCR technology,MassARRAY iPLEX single base extension technology and matrix-assisted laser desorption ionization time-of-flight mass spectrometry mass spectrometry technology were used to detect the 24 SNPs in 21 genes by detecting the molecular weight of extension products,and analyze the differential expression of each genotype and allele in each group.Results The statistical results of 6 SNP loci did not meet the Hardy-Weinberg equilibrium.The genotype frequency distribution of 18 SNP loci was not statistically different between the BCS group and the control group.The frequency of MTHFR C677T(rs1801133)locus A allele frequency in the BCS group was higher than that in the control group(OR=2.769,95%CI:1.171-4.465,P=0.004).Conclusion The MTHFR C677T(rs1801133)locus A allele may be a risk factor for BCS in northern Anhui.