CFTR 2562T>A位点多态性与急性胰腺炎风险的相关性  

Association of CFTR Gene 2562T>A Polymorphism with Risk of Acute Pancreatitis

作　　者：金爽 金光军 Jin Shuang;Jin Guangjun(Emergency Department,Wenzhou People's Hospital,Zhejiang 325000,China)

机构地区：[1]温州市人民医院急诊科,325000 [2]浙江中医药大学附属第二医院急诊医学科,杭州310005

出　　处：《医学研究杂志》2019年第7期81-85,共5页Journal of Medical Research

基　　金：浙江省温州市公益性科技计划项目(Y20170321)

摘　　要：目的分析研究囊性纤维跨膜转运调节因子(cystic fibrosis transmembrane conductance regulator,CFTR)基因rs1042077(2562T>A)位点单核苷酸多态性与急性胰腺炎(acute pancreatitis,AP)发生风险的相关性。方法选择笔者医院2015年12月~2017年10月期间收治的AP患者(AP组)100例作为研究对象,同时招募100例健康体检者作为对照组(healthcontrol,HC)。采用直接测序法检测所有受试者CFTR基因rs1042077位点基因型。采用急性生理和慢性生理健康评分(APACHEⅡ)和BalthazerCT严重指数(CTSI)评分评价AP患者病情严重程度。结果CFTR基因rs1042077位点基因型和等位基因频率在AP组患者与HC组之间比较,差异有统计学意义(χ^2分别为6.91、8.05;P值分别为0.03、<0.01),纯合子(AA)是AP发生的保护因素(OR=0.34,95%CI:0.12~0.93,P=0.02),A等位基因携带者发生AP的风险较低(OR=0.53,95%CI:0.34~0.85,P=0.01)。CFTR基因rs1042077位点野生型AP患者的APACHEⅡ评分和CTSI评分均显著高于突变型,差异有统计学意义(t值分别为7.66、12.41,P均<0.01)。CFTR基因rs1042077位点突变型(TA/AA)基因频率在SAP组和MSAP组中较低(t=19.82,P=0.000)。结论CFTR基因rs1042077位点单核苷酸多态性与急性胰腺炎及其严重程度相关。Objective To study the single nucleotide polymorphism of cystic fibrosis transmembrane conductance regulator (CFTR) gene rs1042077 (2562T>A) and the risk of acute pancreatitis (AP).Methods One hundred patients with AP (AP group) admitted to our hospital from December 2015 to October 2017 were enrolled as subjects,and 100 healthy subjects were recruited as a control group (health control,HC).The genotype of the CFTR gene rs1042077 locus was detected by direct sequencing.The severity of AP patients was assessed using the Acute Physiological and Chronic Physiological Health Score (APACHE Ⅱ) and the Balthazer CT Severity Index (CTSI) score.Results The genotype and allele frequency of CFTR gene rs1042077 were significantly different between AP group and HC group (χ^2 =6.91,8.05;P =0.03,<0.01),homozygous (AA) is a protective factor for AP (OR=0.34,95% CI:0.12-0.93,P =0.02),and the risk of AP in A allele carriers is lower (OR=0.53,95% CI:0.34-0.85,P =0.01).The APACHE Ⅱ score and CTSI score of CFTR gene rs1042077 wild-type AP patients were significantly higher than those of mutants ( t =7.66,12.41;both P <0.01).The frequency of the rs1042077 locus mutants (TA/AA) was lower in the SAP group and the MSAP group ( t =19.82,P =0.000).Conclusion The single nucleotide polymorphism of the rs1042077 locus in the CFTR gene is associated with the occurrence and severity of acute pancreatitis.

关 键 词：胰腺炎 囊性纤维跨膜转运调节因子 单核苷酸多态性 

分 类 号：R576.1[医药卫生—消化系统]