中国东北汉族人群解偶联蛋白3基因-55C/T多态性与2型糖尿病相关性研究

目的探讨解偶联蛋白3(uncoupling protein 3,UCP3)基因-55C→T变异与中国东北地区2型糖尿病的关系。方法用聚合酶链反应-限制性片段长度多态性检测100例2型糖尿病患者(男/女为58/42)及113名糖耐量正常者(男/女为56/57)UCP3基因-55C→T变异的基因型。结果 2型糖尿病组与正常对照组三种基因型频率及等位基因频率分布差异均有显著性意义,P值分别为0.027和0.003,两组间携带T的基因型(CT+TT)频率差异有显著意义(P=0.008);T等位基因与2型糖尿病患者血清总胆固醇(CHOL)及低密度脂蛋白(LDLC)频率升高相关(P为0.021,0.024)。结论 UCP3基因-55C→T变异与中国东北汉族人群2型糖尿病患者局部体脂代谢存在相关性,该基因变异与2型糖尿病发病相关。     

解偶联蛋白2启动子区-866G/A多态性与中国北方人肥胖的关系

目的：研究UCP2基因启动子区-866G/A的多态性与中国北方人肥胖的关系.方法：采用PCR及PCR-RFLP方法检测101名正常人的UCP2基因启动子区-866G/A的多态性，测定空腹血糖、胰岛素、血脂、体重及身高，计算体质指数（BMI）.结果：（1）-866G/A基因型频率在中国北方正常人群的分布为，GG 31例（30.7%）、GA 46例（45.5%）、AA 24例（23.8%）.（2）在正常组及超重肥胖组-866G/A的三种基因型频率分布无明显差异.（3）-866G/A多态性的三种基因型的BMI与肥胖相关的表型空腹血糖、空腹胰岛素、血脂差异均无显著性.结论：（1）中国北方人群的UCP2基因启动子区-866G/A基因型、分布与日本人相似，与欧洲白人及高加索人群差异存在显著性.（2）未发现UCP2基因启动子区-866G/A多态性与中国北方人肥胖的关系.     

解偶联蛋白2基因多态性与糖尿病合并冠心病的关系

目的:探讨解偶联蛋白2基因(UCP-2)8号外显子3’-末端(3’-UTR)45bp插入/缺失多态与糖尿病合并冠心病的关系。方法:201例糖尿病患者(其中45例伴有冠心病,156例不伴冠心病),检测所有患者的基因组DNA,用聚合酶链反应PCR方法对UCP-2基因进行扩增,记录各组UCP-2等位基因及基因型频率并进行比较。结果:UCP-2基因8号外显子3’-末端(3’-UTR)45bp插入/缺失多态在伴有冠心病组和不伴冠心病组中基因型分布差异无显著性,两组的等位基因频率差异亦无显著性(χ2=0.08,P>0.05)。结论:UCP-2基因8号外显子3’-末端(3’-UTR)45bp插入/缺失多态与中国人糖尿病并发冠心病无相关性。     

解偶联蛋白2启动子-866G／A多态性与中国北方儿童肥胖病相关性研究

目的：研究解偶联蛋白2（UCP2）基因启动子-866G/A单核苷酸多态性与中国北方儿童肥胖病遗传发病机制的相关性。方法病例组选取2010年1～9月于北京儿童医院内分泌科就诊且无血缘关系的儿童肥胖病患者220例。对照组选自无血缘关系的成年健康献血员220例。用血液基因组DNA提取试剂盒提取外周血基因组DNA,UCP2基因启动子-866G/A单核苷酸多态性分析采用PCR-RFLP法,并选取部分标本进行测序分析。结果（1）UCP2基因启动子-866A等位基因在中国肥胖病儿童中的频率与正常对照组相近,无统计学差异（44．8％ vs．46．4％,χ2＝0.224,P＝0.685）。（2）GG、GA和AA基因型在患者频率分布为34．5％、41．4％及24．1％;在对照组中的分布为27．3％、52．7％及20.0％,三者在患者与对照中的频率分布无显著性差异（ P＞0.05）。包含等位基因A的基因型AA和GA基因型频率之和在对照组中的频率增加,但无统计学差异（65．5％vs．72.7％,P＝0.122）。按性别进行分层分析,肥胖病男童与对照组的基因型频率分布尚无显著性差异（ P＝0.05）,在女童中亦无显著性差异（ P＝0.512）。结论 UCP2基因启动子-866 G/A单核苷酸多态性与中国儿童肥胖病遗传发病机制未见显著相关性。 UCP2基因启动子-866 G/A多态性与肥胖病的遗传发病机制的相关性存在一定的人种差异。     

2型糖尿病与Apelin基因7250A→G多态性相关性研究

目的 探讨脂肪因子Apelin基因7250A→G多态性与中周昆明地区2型糖尿患者群是否存在关联。方法运崩错配碱基-巢式聚合酶链式反应-限制性片段长度多态性分析方法在329例无亲缘关系的中闰昆明地区人群（2型糖尿病患者216例，健康对照者113例）中对Apelin基因7250A→C多态性进行检测。结果Apelin基因7250A→G多态性的基因型和等位基因频率在2型糖尿病组和正常对照组问的分布差异无统计学意义（P=0．421，P〉0．05）。结论在昆明地区人群中Apelin基因7250A→G多态性与2型糖尿病可能不存在任何关联。     

解偶联蛋白3在2型糖尿病发生发展中的作用

解偶联蛋白3(UCP3)是解偶联蛋白家族成员之一,系线粒体内膜上阴离子转运蛋白,主要通过质子漏的作用降低线粒体膜内外电化学梯度,影响电子呼吸链,从而使ATP和活性氧的产生减少,使能量以热能的形式释放。UCP3主要在骨骼肌中表达,而骨骼肌是机体外周摄取葡萄糖的主要组织,同时骨骼肌胰岛素抵抗是2型糖尿病患者的主要缺陷,故人们推测,解偶联蛋白3可能在2型糖尿病的发生发展中发挥重要作用。深入探索UCP3在2型糖尿病中的作用有助于为2型糖尿病的治疗提供一个新的治疗靶点。     

解偶联蛋白1基因多态性与2型糖尿病心脑血管并发症的相关性

目的 探讨解偶联蛋白1(UCP1)基因多态性与2型糖尿病(T2DM)心脑血管并发症的相关性.方法 选取2019年7月—2020年7月住院治疗的T2DM 440例,根据有无心脑血管并发症分为观察组(T2DM合并心脑血管并发症)221例和对照组(单纯T2DM)219例.比较两组一般资料,UCP1在rs45539933、rs...     

2型糖尿病伴肥胖患者解偶联蛋白3基因及浆细胞膜蛋白-1基因的表达研究

目的 探讨解偶联蛋白3(UCP3)基因、浆细胞膜蛋白-1(PC-1)基因在2型糖尿病(T2DM)伴肥胖患者中的表达.方法 收集本院2018年6-12月120例T2DM伴肥胖患者、120例T2DM非肥胖患者、120例肥胖患者、120例非T2DM非肥胖健康者的临床资料.采用聚合酶链反应和限制性内切酶片段长度多态性(PCR-...     

环氧化酶-2基因多态性与2型糖尿病的相关性研究

目的探讨环氧化酶(COX)基因-765G/C和-1195G/A多态性与2型糖尿病(T2DM)的相关性。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和全自动临床生化分析仪法,对120例T2DM患者和92例健康对照者的COX-2基因多态性和常用临床指标进行检测,比较分析两组间基因型频率和等位基因频率及其临床资料。结果 T2DM组的血糖、餐后2h血糖、TG均高于对照组,差异有统计学意义(P<0.05);而HDL-C、载脂蛋白(Apo)AⅠ均低于对照组,差异有统计学意义(P<0.05);两组-1195G/A位点基因型的频率比较,差异有统计学意义(P<0.05)。结论 COX-2基因-1195G/A多态性可能与皖北地区T2DM的发病相关。     

中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病易感性的Meta 分析

目的 探讨中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病易感的相关性.方法 检索2011年11月前中国生物医学文献数据库(CBM)、中国期刊全文数据库(CNKI)、万方数据库、维普中文科技期刊数据库(VIP)及Medline、Cochrane Library、Embase、Springer、Ovid等数据库,收集有关中国人群脂联素基因-11377C/G多态性与2型糖尿病的相关性研究;评价纳入研究质量,提取有效数据,采用Review Manager5.0软件进行Meta分析.结果 共纳入12组研究中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病的相关性的病例-对照研究,2型糖尿病病例2 598例,对照4 508例.Meta分析发现,脂联素基因启动子区-11377C/G位点C/G多态性与2型糖尿病相关性中G等位基因与C等位基因[OR=1.14,95%CI(1.03,1.25),P=0.009]、基因型(CG+GG)与CC[OR=1.19,95%CI(1.06,1.35),P=0.004]、基因型CG与CC[OR=1.14,95%CI(1.00,1.29),P=0.05]、基因型GG与CC[OR=1.34,95%CI(1.06,1.71),P=0.02]均具有统计学意义差异.结论 中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病易感性存在相关性.     

Simple and rapid detection of uncoupling protein-2 - 866G/A polymorphism by mutagenically separated polymerase chain reaction

BACKGROUND: Uncoupling protein-2 (UCP2), a recently identified member of the mitochondrial transporter superfamily, is a candidate gene for obesity. A common G/A polymorphism in the UCP2 promoter region is associated with enhanced adipose tissue mRNA expression in vivo. METHODS: We developed a rapid and simple method, mutagenically separated polymerase chain reaction (MS-PCR) for genotyping UCP2 - 866G/A polymorphism. Two reverse mutagenic allele-specific primers of different lengths for the UCP2 - 866G/A polymorphic site were paired with the same forward primer in the same PCR reaction. RESULTS: Agarose gel electrophoresis (3.5%) showed at least one of the two allelic products and provided a within-assay quality control to exclude false-negative results. The 203-bp fragment of the PCR products was A allele-specific and the 183-bp fragment was G allele-specific. The frequencies of the UCP2 - 866G/A genotypes in 72 Japanese subjects were AA: 21 (29.2%), AG: 32 (44.4%), and GG: 19 (26.4%). The results were confirmed by the PCR-RFLP genotyping method, in which a 360-bp fragment of PCR products was cut into 290- and 70-bp fragments by the restriction enzyme MluI when the G allele was present. This Japanese group showed a higher frequency of the AA genotype, which is associated with a low prevalence of obesity, than Caucasian populations. CONCLUSIONS: The MS-PCR technique is a simple, rapid, and reliable method for genotyping UCP2 - 866G/A polymorphism.     

Uncoupling protein 2 promoter polymorphism -866G/A affects peripheral nerve dysfunction in Japanese type 2 diabetic patients

OBJECTIVE: To determine genetic predispositions for diabetic polyneuropathy, we investigated the relationship between the -866G/A polymorphism of uncoupling protein (UCP) 2 and neurological manifestations in 197 type 2 diabetic patients. RESEARCH DESIGN AND METHODS: We first examined whether UCP2 mRNA had been expressed in the dorsal root ganglion (DRG) in four Long-Evans Tokushima Otsuka rats using RT-PCR and electrophoresis. Genotyping of UCP2 promoter polymorphism -866G/A was then performed in 197 unrelated Japanese type 2 diabetic patients, who were subjected to nerve conduction, quantitative vibratory perception, head-up tilt, and heart rate variability tests, by PCR restriction fragment-length polymorphism. The relationships between UCP2 genotype and various nerve functions were analyzed by uni- and multivariable analysis. RESULTS: Expression of UCP2 mRNA was confirmed in rat DRG. Multiple regression analysis clarified the hypothesis that the G/A + A/A genotype was significantly related to decreased motor nerve conduction velocity and impaired blood pressure maintenance on the head-up tilt test. Multiple logistic regression analysis revealed that the G/A + A/A genotypes are a significant risk factor for sensory nerve conduction slowing and orthostatic hypotension. CONCLUSIONS: UCP2 promoter gene polymorphism -866 G/A was significantly associated with nerve conduction slowing and vasomotor sympathetic functions. These findings suggest that the higher UCP2 activity related to the A allele has an energy-depleting effect on peripheral nerve function in type 2 diabetic patients.     

脂联素基因启动子区-11377C／G单核苷酸多态性与中国北方汉族人2型糖尿病的关系

目的:分析脂联素基因启动子区-11377C/G(SNPs-11377C/G)单核苷酸多态性与中国北方汉族人2型糖尿病的关系。方法:选择2004/2005北京市和黑龙江哈尔滨地区的2型糖尿病流行病学调查资料中有糖尿病家族史,且相互间无亲缘关系的2型糖尿病患者348例,同时选择非糖尿病健康对照378例。所有研究对象均为汉族人,均签署了知情同意书。用聚合酶链反应-限制性片段长度多态方法鉴定脂联素基因启动子区SNPs-11377C/G的单核苷酸多态性。结果:726例研究对象均进入结果分析。①2型糖尿病组中CC,CG,GG基因型分别为171例(49.1%),151例(43.4%),26例(7.5%),正常对照组中CC,CG,GG基因型分别为180例(47.6%),173例(45.8%),25例(6.6%)。SNPs-11377C/G的基因型频率和等位基因频率在2型糖尿病组和正常对照组中的分布差异无显著性(P>0.05)。②SNPs-11377C/G的基因型频率和等位基因频率的分布性别差异也无显著性(P>0.05)。③SNPs-11377C/G不同基因型组中肥胖指标(体质量指数、腰围和腰臀比)的特征差异也无显著性(P>0.05)。结论:脂联素基因启动子区-11377C/G(rs266729)单核苷酸多态性与中国北方汉族人2型糖尿病无明显相关性。     

The uncoupling protein-1 gene -3826A/G polymorphism and hypertension in Japanese subjects.

BACKGROUND: The possible effects of the uncoupling protein-1 (UCP-1) gene -3826A/G polymorphism on hypertension (HT) have yet to be elucidated. METHODS: A total of 578 Japanese subjects (231 males and 347 females, mean age 58.4 years) were enrolled in the study to investigate the association between HT and the -3826A/G polymorphism by genomic PCR and Bcl1-restriction fragment length polymorphism methods. RESULTS: Multivariate logistic regression analysis for HT, adjusted for genotype (recessive model, AA+AG vs. GG) and other covariates such as cardiovascular risk factors [e.g., smoking, body mass index (BMI), dyslipidemia and diabetes] showed age [odds ratio (OR) 1.11 (95% confidence interval 1.08-1.13)] and BMI [OR 1.13 (1.06-1.21)] as independent significant factors. In the subgroup analysis, as well as age and BMI, GG genotype [OR 2.32 (1.08-4.99)] was also an independent significant factor for HT in males. Similarly, as well as age and BMI, GG genotype [OR 1.89 (1.00-3.57)] was also an independent significant factor for HT in the relatively older subgroup (> or =60 years). CONCLUSIONS: The results suggest that the GG genotype may be associated with the presence of HT in Japanese males and older subjects. Further investigation is needed to confirm our hypothesis.     

广西壮族人群ADIPOQ基因rs2241766T/G多态性与T2DM易感性的相关性分析

摘要:目的探讨脂联素基因(ADIPOQ)rs2241766T/G位点单核苷酸多态性(SNP)与广西壮族人群新发2型糖尿病(T2DM)易感性及不同代谢参数之间的相关性。方法采用 SNPscan高通量技术检测广西地区212例新发T2DM患者和289例健康人对照者的rs2241766T/G基因分型,统计并分析二者的差异性。结果rs2241766T/G 位点存在GG、TG和TT基因型及G和T等位基因;T2DM组与对照组基因型频率差异有统计学意义(X = 6.294,P = 0.043) ;TG( OR= 2.443, 95%CI:1.197-4.988 ,P=0.014)、TT( OR= 2.057 ,95%CI:1.017-4.159, P=0.045)及TG+TT( OR= 2.222, 95%CI:1.122~4.402 ,P=0.022)基因型与T2DM风险增加显著相关;在调整性别和年龄共同混杂因素后,TG .TT和TG+TT基因型患T2DM风险分别是GG基因型的2.863倍 ( OR= 2.863 ,95% CI:1.352~ 6.060,P=0.006)、2.291倍(OR=2.291, 95%Cl:1.094~4.800, P=0.028)和2.532 倍(OR= 2.532,95%CI:1.235~ 5.192 ,P=0.011);与健康人对照组比较,不同基因型T2DM患者的多种临床生化代谢指标间的差异有统计学意义(P均<0.05),且证实rs2241766T/G SNP可影响患者肌酐(Gr)水平(P=0.049)。结论ADIPOQ rs2241766T/G SNP与广西壮族人群T2DM易感性增加相关,或可作为预测T2DM风险的潜在遺传标志物。