MicroRNA-938及其靶基因TGFBR1单核苷酸多态性与出血性脑卒中的关联研究  

Association study between microRNA-938 and TGFBR1 single nucleotide polymorphisms and hemorrhagic stroke

作　　者：宋波[1] 程云[1] 姜玉章[2] 沈冲[3] 薛永[1] 李婴慧 Song Bo;Cheng Yun;Jiang Yuzhang;Shen Chong;Xue Yong;Li Yinghui(Department of Laboratory,The Third People’s Hospital of Huai’an,Huai’an 223001,China;Department of Medical Laboratory,Huai’an First People’s Hospital,Nanjing Medical University,Huai’an 223300,China;Department of Epidemiology&Biostatistics School of Public Health,Nanjing Medical University,Nanjing 211166,China)

机构地区：[1]淮安市第三人民医院检验科,2230011 [2]南京医科大学附属淮安市第一人民医院检验科,淮安223300 [3]南京医科大学公共卫生学院流行病与卫生统计学系,南京211166

出　　处：《中华脑科疾病与康复杂志（电子版）》2019年第4期205-209,共5页Chinese Journal of Brain Diseases and Rehabilitation（Electronic Edition）

基　　金：国家自然科学基金(81273165);江苏省自然科学基金(BK2011776);淮安市科委资助项目(HAS2011027)

摘　　要：目的探讨转化生长因子β受体1(TGFBR1)基因位点rs12346650及结合该基因的miR-938编码基因位点rs2505901单核苷酸多态性(SNP)与出血性脑卒中(HS)的关联。方法采用病例-对照研究方式,以自2008年1月至2013年7月淮安市第一人民医院和淮阴区医院收治的239例急性HS患者为病例组,993例无脑卒中史的社区人群为对照组。收集性别、年龄、身高、体质量等基本人口信息,及糖尿病史、高血压病史,测量血压并检测血糖(GLU)、甘油三酯(TG)、胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)。采用聚合酶链式反应-限制性内切酶片段长度多态性(RFLP)的方法进行基因分型。结果病例组和对照组间rs2505901和rs12346650的基因型、等位基因型频率差异均无统计学意义(P>0.05)。应用Logistic回归模型校正混杂因素年龄、性别、Ⅱ型糖尿病、TC、TG、HDL-C和LDL-C后,结果仍无统计学意义(P>0.05)。进一步按性别对两个位点与HS的关联性进行分层分析,男性中rs2505901位点显性模型有统计学意义[比值比(OR)=0.641,95%置信区间(CI):0.417~0.984]。rs12346650位点相加模型和隐性模型均有统计学意义(OR=1.369,95%CI:1.020~1.836;OR=2.092,95%CI:1.243~3.520)。但校正混杂因素后,模型差异无统计学意义(P>0.05)。在女性人群中,而校正协变量后rs12346650位点隐性模型有统计学意义(OR=0.318,95%CI:0.114~0.891)。结论本研究初步发现TGFBR1基因rs12346650、MIR938基因rs2505901多态性与HS存在关联。Objective To investigate the association between rs12346650 G>A polymorphisms in transforming growth factorβreceptor 1(TGFBR1)gene and rs2505901 C>T polymorphisms in microRNA-938 and hemorrhagic stroke(HS).Methods A total of 239 patients with acute HS and993 controls from a community population were recruited in this study.The basic information of age,sex,height,weight,diabetes history and hypertension history were collected,and blood samples were collected to test blood pressure(BP),glucose(GLU),triglycerides(TG),total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),and low-density lipoprotein cholesterol(LDL-C).Using polymerase chain reaction-restrictive fragment length polymorphism(PCR-RFLP)to determine genotype.Results The genotype frequencies of rs2505901 and rs12346650 have no statistical difference between HS case group and control group as well as after adjusted for age,sex,diabetes history,hypertension history,TC,TG,HDL-C and LDL-C(P>0.05).Further stratification analysis by sex indicated that the dominant genetic model of rs2505901,the additive and recessive model of rs12346650 showed statistical significance for male HS and OR(95%CI)were 0.641(0.417-0.984),1.369(1.020-1.836)and 2.092(1.243-3.520)respectively.But the association weren’t significant after adjusted for confounding factors as above.For female,the receive model of rs12346650 showed significantly association with HS and the OR(95%CI)was 0.318(0.114-0.891)after adjusted for confounding factors.Conclusion The finding in the present study suggested that there was weak association between MIR938 and TGFBR1 genetic polymorphisms and HS.

关 键 词：单核苷酸多态性 出血性脑卒中 转化生长因子β受体1 微小RNA-938 

分 类 号：R743.3[医药卫生—神经病学与精神病学]