ADP-核糖基化样因子15与过氧化物酶体增殖物激活受体γ辅激活因子1α基因单核苷酸多态性与糖尿病肾脏疾病的相关性研究  

Association of Single Nucleotide Polymorphisms of ARL 15 and PGC-1α Genes with Diabetic Kidney Disease

作　　者：凃影叶 张洪江 康淳 杜飞 崔佳慧 邵薇 袁志敏 王伟杰[4] 杨康鹃[1] TU Yingye;ZHANG Hongjiang;KANG Chun;DU Fei;CUI Jiahui;SHAO Wei;YUAN Zhimin;WANG Weijie;YANG Kangjuan(College of Medicine,Yanbian University,Yanji 133002,China;Yanbian University Hospital,Yanji 133002,China;Hebei Armed Police Corps Hospital,Shijiazhuang 050081,China;Hunchun Traditional Chinese Medicine Hospital,Hunchun 133300,China)

机构地区：[1]延边大学医学院,吉林省延吉市133002 [2]延边大学附属医院,吉林省延吉市133002 [3]河北武警总队医院,河北省石家庄市050081 [4]吉林省珲春市中医医院,133300

出　　处：《中国全科医学》2021年第27期3469-3476,共8页Chinese General Practice

基　　金：延边大学大学生创新创业训练资助项目(202010184001);国家自然科学基金资助项目(81460158);吉林省卫生与健康技术创新项目(2020J005)。

摘　　要：背景ADP-核糖基化样因子15(ARL15)基因rs4311394位点和过氧化物酶体增殖物激活受体γ辅激活因子1α(PGC-1α)基因rs7656250位点已被证实与血脂紊乱密切相关,而血脂紊乱作为糖尿病肾脏疾病(DKD)的重要危险因素之一,其是否与DKD存在相关性尚未可知。目的探究ARL15、PGC-1α基因单核苷酸多态性(SNP)与DKD的相关性。方法选取2018-2019年于延边大学附属医院和延吉市医院确诊的朝鲜族和汉族2型糖尿病(T2DM)患者393例(记为T2DM组)、DKD患者90例(记为DKD组),同期选取在延边大学附属医院进行单位体检的健康人268例〔记为糖耐量正常组(NGT组)〕。检测所有受试者生理、生化指标,采用单碱基延伸法检测ARL15、PGC-1α基因rs4311394、rs7656250位点基因型,酶联免疫吸附试验(ELISA)法检测ARL15、脂联素蛋白水平。结果NGT组中汉族137例,朝鲜族131例;T2DM组中汉族205例,朝鲜族188例;DKD组中汉族55例,朝鲜族35例。NGT组汉族和朝鲜族人群ARL15基因rs4311394位点、PGC-1α基因rs7656250位点等位基因频率、基因型频率比较,差异无统计学意义(P>0.05)。三组ARL15基因rs4311394位点、PGC-1α基因rs7656250位点等位基因频率、基因型频率比较,差异无统计学意义(P>0.05)。三组ARL15、PGC-1α基因联合位点等位基因频率、基因型频率比较,差异无统计学意义(P>0.05)。携带PGC-1α基因rs7656250位点CT基因型受试者空腹血糖(FPG)水平高于CC、TT基因型受试者(P<0.05);携带PGC-1α基因rs7656250位点CT、TT基因型受试者脂联素低于CC基因型受试者,TT基因型受试者脂联素低于CT基因型受试者(P<0.05)。T2DM组患者脂联素低于NGT组(P<0.05);DKD组患者ARL15、脂联素高于NGT组、T2DM组(P<0.05)。Spearman秩相关分析结果显示,ARL15与脂联素呈正相关(rs=0.372,P<0.05)。结论ARL15、PGC-1α基因SNP与DKD不相关,但携带PGC-1α基因rs7656250位点CT、TT基因型人群的脂联素水平下降。Background ADP-ribosylation factor-like protein 15(ARL15)rs4311394 and peroxisome proliferator-activated receptor-γcoactivator 1α(PGC-1α)rs7656250 have been demonstrated to be closely correlated with dyslipidemia,a key risk factor for diabetic kidney disease(DKD),but whether these gene loci have an association with DKD remains unknown.Objective To explore the association of single nucleotide polymorphisms(SNPs)of ARL15 and PGC-1αgenes with DKD.Methods Participants were China's Han and Korean individuals who were enrolled during 2018—2019,including 393 with T2DM(T2DM group,including 205 Han and 188 Korean cases),and 90 with DKD(DKD group,including 55 Han and 35 Korean cases)from Yanbian University Hospital and Yanji Municipal Hospital,and 268 workers with normal glucose tolerance(NGT)undergoing physical examination in Yanbian University Hospital(NGT group,including 137 Han and 131 Korean cases).Data were collected,comprising physiological and biochemical indicators,alleles and genotypes of ARL15 rs4311394 and PGC-1αrs7656250 detected by single-base extension assay,and levels of ARL15 and adiponectin proteins detected using ELISA.Results The results exhibited no statistically significant differences regarding both allele and genotype frequencies of ARL15 rs4311394 and PGC-1αrs7656250 between Han and Korean cases in the NGT group(P>0.05).Also,the differences in both allele and genotype frequencies of ARL15 rs4311394 and PGC-1αrs7656250 across three groups were not statistically significant(P>0.05).In addition,no statistically significant differences were noted in allele and genotype frequencies of ARL15 and PGC-1αgene loci among the three groups(P>0.05).However,the FPG level was higher in carriers of CT genotype of PGC-1αrs7656250 than in carriers of CC or TT genotype of PGC-1αrs7656250(P<0.05).The adiponectin protein level was lower in carriers of CT or TT genotype of PGC-1αrs7656250 than in carriers of CC genotype of PGC-1αrs7656250,and also lower in carriers of TT genotype of PGC-1αrs7656250 than i

关 键 词：糖尿病肾脏疾病 ADP-核糖基化样因子15 过氧化物酶体增殖物激活受体γ辅激活因子1α 多态性 单核苷酸 基因型 数据相关性 

分 类 号：R587.24[医药卫生—内分泌]