非编码RNA ANRIL CNV-2738282增加中国南方人群肺动脉高压的易感性  

Non-coding RNA ANRIL CNV-2738282 increases susceptibility to pulmonary hypertension in southern China

作　　者：李惠波 段跃兴 赖晓纯[2] 冯燕玲 黄莲枝 陈钦修 程宏基 郑栋 伍金雷 程颖 黄冰生 林桂雄 吴钰燕 张鹏 李国扬 曾庆春 卓裕丰 LI Huibo;DUAN Yuexing;LAI Xiaochun;FENG Yanlin;HUANG Lianzhi;CHEN Qinxiu;CHENG Hongji;ZHENG Dong;WU Jinlei;CHENG Ying;HUANG Bingsheng;LIN Guixiong;WU Yuyan;ZHANG Peng;LI Guoyang;ZENG Qingchun;ZHUO Yufeng(Department of Cardiology,Hexian Memorial Hospital of Panyu District,Guangzhou 511440,China)

机构地区：[1]广州市番禺区何贤纪念医院心内科,广州511400 [2]广州医科大学附属第二医院肾内科,广州510260 [3]广州市番禺区何贤纪念医院呼吸内科,广州511400 [4]南方医科大学南方医院心内科,广州510515

出　　处：《实用医学杂志》2021年第13期1678-1683,共6页The Journal of Practical Medicine

基　　金：广东省科学技术厅资助项目(编号:2016A020215014)。

摘　　要：目的本项目拟探索位9p21.3的非编码RNA(LncRNA ANRIL)拷贝数变异(copy-numbervariations,CNVs)与肺动脉高压(pulmonary hypertension,PAH)的关系,为PAH的发病机制提供科学理论依据。方法以来自中国南方587例PAH患者作为病例组和736例健康对照者作为对照组,TaqMan方法检测ANRIL CNVs的基因型,分析其与PAH发病的相性;通过系列生物学实验揭示阳性CNV影响PAH发生的分子机制。结果 ANRIL CNV-2738282与人群PAH发病存在显著关联,其拷贝数缺失能降低PAH的发病风险(OR=0.40,95%CI:0.31~0.53)。CNV-2738282的拷贝数缺失可降低ANRIL表达,进而改变ANRIL对靶基因CARD8的转录调控而影响PAH发生。结论 ANRIL CNV-2738282与PAH发病有关,可作为人群PAH易感评估的生物标志物。Objective To investigate the relationship between 9p21.3 non-coding RNA(LncRNA ANRIL)copy number variations(CNVs)and pulmonary hypertension(PAH),and provide a scientific theoretical basis for the pathogenesis of PAH.Methods Based on a case-control study of 587 PAH patients as the case group and 736healthy adults as the control group in southern China,the genotype of ANRIL CNVs was detected by TaqMan method,and the correlation between ANRIL CNVs and PAH was analyzed.A series of biological experiments revealed that CNVs were the molecular mechanism affecting the occurrence of PAH.Results ANRIL CNV-2738282 was significantly associated with the incidence of PAH in the population.Loss of copy number could reduce the risk of PAH(OR=0.40,95%CI:0.31~0.53).The deletion of CNV-2738282 copy number can decrease the expression of ANRIL,and then alter the transcriptional regulation of target gene CARD8 by ANRIL,thus affect the occurrence of PAH.Conclusion ANRIL CNV-2738282 is associated with PAH and can be used as a biomarker for PAH susceptibility assessment.

关 键 词：非编码核糖核酸 拷贝系数变异 肺动脉高压 易感性 

分 类 号：R543.2[医药卫生—心血管疾病]