线粒体DNA D-loop区基因多态性与溃疡性结肠炎的相关性  

Correlation between gene polymorphisms of mitochondrial DNA D-loop region and ulcerative colitis

作　　者：卢加杰[1] 刘晶[1] 木尼拉·买买提[1] 李紫琼[1] 冯燕[1] 高峰[1] LU Jia-jie;LIU Jing;Mnila Maimaiti;LI Zi-qiong;FENG Yan;GAO Feng(Department of Gastroenterology,People’s Hospital of Xinjiang Uygur Autonomous Region,Urumqi,Xinjiang 830001,China)

机构地区：[1]新疆维吾尔自治区人民医院消化科,新疆乌鲁木齐830001

出　　处：《中国临床研究》2021年第10期1297-1301,共5页Chinese Journal of Clinical Research

基　　金：新疆维吾尔自治区自然科学基金资助项目(2017D01C112)。

摘　　要：目的研究线粒体DNA(mtDNA)D-loop区的基因多态性与溃疡性结肠炎(UC)的相关性。方法选择2017年1月至2019年8月诊治的180例UC患者的直肠病变黏膜组织(UC组)及同期体检健康者180例的正常直肠黏膜组织(对照组),应用聚合酶链反应(PCR)对其mtDNA D-loop区进行扩增并测序,将测序结果与剑桥标准序列(rCRS)进行比对查找变异位点。结果UC患者病变肠黏膜组织mtDNA D-loop区共发现218个变异位点,健康对照者正常肠黏膜组织mtDNA D-loop区发现了203个变异位点。两组中有19个变异位点发生率>10%,且在两组中均存在,其中4个位点的发生率差异有统计学意义:健康对照组16520(T→C)的发生率显著高于UC组(χ^(2)=6.890,P<0.01),UC组311(T--→CTC)、16299(T→C)、16320(G→A)的发生率显著高于健康对照组(χ^(2)=58.973,P<0.01;χ^(2)=141.917,P<0.01;χ^(2)=20.238,P<0.01)。UC不同临床类型、不同病变范围、不同严重程度间变异位点的发生率差异均无统计学意义(P>0.05)。结论mtDNA D-loop区在UC中是一个具有高度多态性和较高突变率的区域,该部位的突变与UC发病相关,UC患者病变肠黏膜组织线粒体酶呼吸链复合体活性下降及ATP含量匮乏可能均与此有关。Objective To study the relationship between gene polymorphisms of mitochondrial DNA(mtDNA)D-loop region and ulcerative colitis(UC).Methods The rectal mucosal tissues were taken respectively from 180 UC patients with mucosal lesions treated from January 2017 to August 2019(UC group)and 180 physical examiners in the same period(control group).The mtDNA D-loop regions were amplified and sequenced by polymerase chain reaction(PCR)and were compared with the revised Cambridge reference sequence(rCRS)to find the mutation sites.Results In D-loop region of mtDNA,a total of 218 mutant sites and 203 mutant sites were found in UC group and control group,respectively.The incidence of more than 10%in 19 mutant sites was in both groups,and there was a statistical difference in the incidence of four mutant sites between two groups.Among them,the incidence[16520(T→C)]in control group was significantly higher than that in UC group(χ^(2)=6.890,P<0.01),and the incidences[311(T--→CTC)],16299(T→C)and 16320(G→A)in UC group were significantly higher than those in control group(X^(2)=58.973,P<0.01;χ^(2)=141.917,P<0.01;χ^(2)=20.238,P<0.01).There were no significant differences in the incidence of mutant sites among the different clinical type,the different extent of pathological changes and different severity for UC(P>0.05).Conclusions The mtDNA D-loop region in UC with high frequeny of polymorphism and high rate of mutation is related to the pathogenesis of UC,and possibly related to the reduction in activity of mitochondrial respiratory chain complexes and the lack of adenosinetriphosphate(ATP)content.

关 键 词：溃疡性结肠炎 线粒体脱氧核糖核酸 D-LOOP区 基因多态性 肠黏膜屏障 

分 类 号：R574.1[医药卫生—消化系统]