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1.
Objective: To explore the relationship between the β3-adrenergic receptor(β3-AR)gene and obesity, T2DM. insulin resistance in Chinese Han population. Methods: Fifty-three healthy subjects, 105 subjects with simple obesity, 63 type 2 diabetic patients without obesity, and 114 type 2 diabetic patients with obesity were studied with the technique of PCR-RFLP in codon 64 of the exon region of β3-AR gene representing the variation Trp/Arg. Results:Compared with the subjects of Trp homozygous group, the individuals with Arg allele were more elevated in WHR,MBP,SBP,DBP,FBS,PBS, FINS,PINS, FCP,PCP and lower in ISI. Frequency of Arg allele was higher in HINS sub-group without T2DM. Cnclusion: The results indicate that the Trp/Arg variation might lead to insulin resistance, obesity and T2DM.β3-AR gene is supposed to be the candidate gene of insulin resistance, obesity and T2DM in ChineseHan population.  相似文献   

2.
Background It has been shown that the β3-adrenergic receptor (β3-AR) gene Trp64Arg mutation was closely related to obesity and insulin resistance, and may be related to the prevalence of metabolic syndrome (MS). The aim of this study was to investigate the relationship between the 33-AR gene mutation and the prevalence of MS. Methods A seven-year follow-up study was initiated in 2000, with 496 samples of simplex obese subjects (body mass index ≥25 kg/m2) and 248 normal-weight subjects. According to the β3-AR genotypes, the subjects were classified as Trp64 homozygote group and Arg64 carrier group and after 7 years the prevalence of MS was determined. Results According to the baseline profile, there were no significant differences in the adiposity, blood pressure, lipid profile, fasting plasma glucose and fasting insulin between Trp64 homozygote group and Arg64 carrier group either in obesity or normal-weight subjects. The results of follow-up study indicated that in obese men the prevalence rate of MS was much higher in Arg64 carrier group than that in Trp64 homozygote group (54.76% vs. 40.85%, P 〈0.05), but there was no statistical difference in women of the above groups. The prevalence rate of MS in obese men of both Trp64 homozygote group and Arg64 carrier obese group were obviously higher than that in women of the above groups (40.85% vs. 18.27% and 54.76% vs 21.28%, all P 〈0.005). Differences were not statistically significant in the prevalence of MS for normal weight Trp64 homozygote group and normal weight Arg64 carrier group, either between men, between women, or between men and women. Comparison of populations indicated that no matter with the β3-AR gene mutation or not, the prevalence of MS in obese subjects was significantly higher than normal weight subjects (X2=28.240 and x2=15.586, all P 〈0.005). Logistic analysis showed that the mutation of β3-AR gene was associated with the prevalence of MS in men.  相似文献   

3.
Objective To investigate the association of ghrelin gene polymorphisms with metabolic syndrome in Han Nationality Chinese. Methods A total of 240 patients with metabolic syndrome and 427 adults aged above forty years were recruited. Genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism analysis. Results The allelic frequency of the Leu72Met polymorphism was 17.3% in the patient group and 11.9% in the control group (x^2=7.36, P=0.007). Metabolic syndrome was more prevalent among carriers of the Met72 variant (43.8 vs 33.1%, age- and sex-adjusted odds ratio=1.57, P=0.01). No Arg51Gln variants were found in our study subjects. Conclusion Rather than being associated with its individual components, Leu72Met polymorphism is associated with metabolic syndrome in the Han Nationality Chinese. Arg51Gln polymorphism is rare in the Han Nationality Chinese.  相似文献   

4.
Objective: To explore the association between the polymorphism of the β3-adrenergic receptor(β3-AR )gene and obesity, type 2 diabetes, insulin resistance in Chinese pedigrees. Methods: Eight pedigrees with obesity and type 2 diabetes have been detected with the technique of PCR-RFLP in codon 64 of the exon region representing the variation Trp64 Arg of β3-AR gene. Results: In pedigree linkage analysis, the maximal LOD score of β3-AR gene with obesity was 3.385109 (θ=0.000000) at the mode of autosomal dominant in pedigree 3. The maximal LOD score of β3-AR with type 2 diabetes was 0.222336 (θ=0.000000) at the mode of autosomal dominant in pedigree 2 and 0.805003(θ=0.000000) at the mode of autosomal recessive in pedigree 4. Conclusion: The results indicate that ① The Trp 64 Arg variation have a cause effect significances of some familial obesity. Pedigree linkage analysis can powerfully help to understand the action mechanism of the candidate genes, ②Better comphrehension the workings of adrenergic receptors should provide a new understanding of obesity, type 2 diabetes and insulin resistance and perhaps lead to new methods of treatment.  相似文献   

5.
SUMO4 Met55Val variation was shown to be related to type 2 diabetes susceptibility and the vascular complications in Asian people.To further examine the related mechanisms,this study was designed to evaluate the association of SUMO4 Met55Val polymorphism with insulin resistance and β cell function in newly diagnosed type 2 diabetic patients in a Chinese population.Four hundred and twenty seven newly diagnosed type 2 diabetic patients were selected for SUMO4 Met55Val polymorphism genotype analysis.All subjects underwent a 75-g oral glucose tolerance test(OGTT) to estimate the insulin sensitivity and β cell function.Anthropometrics and a metabolic profile were used for phenotyping analysis.The results showed that the SUMO4 Met55Val polymorphism was associated with higher insulin resistance(P<0.001) and lower insulin sensitivity(P<0.001).Patients with GG genotype had higher levels of plasma glucose,insulin and C peptide.Insulin sensitivity index(ISI) was closely correlated with body mass index(BMI) in patients with GG genotype in comparison to the counterparts with AG or AA genotype(r=-0.504 vs.r=-0.430 vs.r=-0.340).Multiple regression linear analysis showed that SUMO4 Met55Val polymorphism was an independent determinant for insulin sensitivity(P=0.001),which,along with triglyceride,BMI and sex,could account for 20.1% of the variation in ISI.The result remained the same after adjusting for BMI and sex.No association was found between SUMO4 Met55Val polymorphism and β cell function(all P>0.05).It was concluded that SUMO4 Met55Val variant was associated with increased insulin resistance in Chinese patients with newly diagnosed type 2 diabetes.  相似文献   

6.
Cui T  Wang L  Wu J  Xie J 《中华医学杂志(英文版)》2003,116(12):1875-1878
Objective To investigate the link between the polymorphism of -109 and Glu237 in the high-affinity IgE receptor β (FcεRⅠβ) gene and susceptibilty to allergic asthma in a Chinese population.Method Blood samples from 216 allergic asthma patients and 198 age- and sex-matched controls were studied. A-109C/T and a coding variant Glu237Gly in FcεRⅠβ were detected with polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). Results The genotype frequencies were 0.403 for -109T/T, 0.491 for -109T/C and 0.106 for -109C/C in allergic asthma in a Chinese population. No significant difference in the distribution of -109C/T polymorphism was found between allergic asthma subjects and healthy controls, however, homozygosity for the -109T allele was associated with increased total plasma IgE levels in subjects with allergic asthma (F=4.020,P&lt;0.05). The allele frequency of Gly237 in the patients and control was 0.236 and 0.136 respectively. There was a significant association between the Gly/Gly genotype and allergic asthma. Among allergic asthma patients Gly237 was significantly associated with high IgE levels.Conclusions These results suggest that the Gly237 variant of the FcεRⅠβ gene is involved in the development of allergic asthma. The-109C/T and Glu237Gly polymorphisms are two of the genetic factor identified thus far, which affect total plasma IgE levels of allergic asthma patients in a Chinese population.  相似文献   

7.
The aim of this investigation was to determine whether a PPAR72 Prol2Ala polymorphism was associated with insulin resistance, β-cellfunction and hypertension in Chinese populations. 289 unrelated Chinese subjects first diagnosed Type 2 diabetes (HbAC1〈6.0) were investigated, including 132 hypertensive diabetic (HTD) subjects, 157 normotensive diabetic (NTD) subjects. Blood pressure and anthropometric measurements were collected from all participants, as well as several venous blood samples during oral glucose tolerance test (OGTT). Biochemical measurements (high-density lipoprotein (HDL) and low-density lipoprotein-cholesterol (LDL), triglycerides) and PPARγ2 Pro12Ala genotype were also determined. And insulin resistance and β-cells function was assessed by HOMA-IR and HOMA-β respectively. The frequency of subjects bearing the Pro12Ala was lower in the hypertension group (3. 03 %) than in the non-hypertension group (5.7 %) (P〈0.05) after adjusted for age, BMI and gender. Hypertensive diabetic Pro12Ala subjects had lower fasting plasma glucose level (P=0. 0127), and better glucose tolerance 60 min after oral glucose (P=0. 0361). Moreover, plasma insulin concentrations at 60 min was lower than those without A variant (P = 0. 0275), and both hypertensive Ala/Pro in HOMA-β (P : 0. 0455) and AUC for insulin (P=0. 0473) were higher, and HOMA-IR was lower (P=0. 0375) as compared with hypertensive Pro/Pro subjects. No association was observed between Prol2Ala genotype and BMI, total cholesterol, HDL- cholesterol or triglycerides in either group. Our findings suggested that the Ala 12 allele of the PPARγ2 gene may improve insulin resistance and ameliorate β-cell function reserves in T2DM with hypertension, and protect patients from hypertension in T2DM. As an important thrifty gene, environment factors may exerts an effect of PPARγ2 on glucose homeostasis and insulin resistance.  相似文献   

8.
In order to investigate whether Arg110Gln polymorphism in the coding region of the IL13 gene is associated with asthma and total plasma IgE level in Han nationality in Hubei Chinese population, the allele frequency of 4257 (g/a) site and Arg110Gln genotype of IL-13 was detected by using restriction fragment length polymorphism in Han nationality in Hubei Chinese population including 43 asthmatic children, 45 asthmatic adults, 31 control children and 46 control adults. Total plasma IgE was measured by Chemil.uminescence assay. The results showed that the frequency of allele A at 4257 bp of IL-13 in children and adults was 0.39 and 0.32, respectively. The GlnGln form of Arg110Gln polymorphism of IL-13 gene was associated with susceptibility of asthma and elevated total plasma IgE in children (P =0. 030 and 0. 0009, respectively), but not with them in adults (P=0. 219 and 0. 174, respectively). Our results suggest that the Arg110Gln polymorphism of IL-13 gene is associated with susceptibility of asthma and elevated total plasma IgE in Chinese children of Han nationality in Hubei, but not with them in adults.  相似文献   

9.
Objective The results of studies on association between -148C/T polymorphism in promoter region of β-fibrinogen gene and susceptibility to cerebral infarction in Chinese population are controversial. In this study, we summarize the results of published works in this field by a meta-analysis. Data sources Genetic association studies evaluating the β-fibrinogen gene -148C/T polymorphisms and cerebral infarction involving Chinese population published before December 2005 were collected from PubMed, EMBASE and CNKI. Study selection Case control studies involving unrelated, Han subjects aged from 18 to 80 years, and the internationally recognized diagnostic standard of cerebral infarction and genotype frequencies in control group consistent with Hardy-Weinberg equilibrium were used. Publication bias was tested by funnel plot and the odds ratios of all studies were combined dependent on the result of heterogeneity test among the individual studies. The software Review Manager (Version 4.2) was used for meta-analysis. Results Eleven studies including 1223 patients and 1433 controls met the selection criteria. There was no heterogeneity among the odds ratios (ORs) of individual studies (χ(2)=17.82, P=0.06). The combined OR of susceptibility to cerebral infarction in -148T allele carriers compared to the wild homozygote was 1.32 (95%CI 1.12 to 1.55, P=0.0008). In the patients with cerebral infarction, the average plasma fibrinogen level of allele T carrier was 0.42 g/L (95%CI 0.29 to 0.54, P&lt;0.001), higher than that of -148C/C homozygous ones. Conclusions β-fibrinogen gene -148C/T polymorphism might contribute to susceptibility to cerebral infarction in Han Chinese. To reach a definitive conclusion, further gene to gene and gene to environment interactions studies on β-fibrinogen polymorphisms and cerebral infarction with large sample size are required.  相似文献   

10.
Background Imbalance of the sympathetic nervous system was involved in the pathogenesis of idiopathic ventricular outflow-tract tachycardia (IVOT). We aimed to investigate whether the major genetic variants in β1-and β2-adrenoceptors and GNB3 C825T were associated with IVOT and verapamil sensitive idiopathic left ventricular tachycardia (ILVT).Methods Patients with IVOT and ILVT from December 2005 to December 2007 were consecutively enrolled into this study. Controls were randomly selected from the community-based inhabitants. Five genetic variants, Ser49Gly and Gly389Arg in the β1-adrenoceptor, Arg16Gly and Gln27Glu in the β2-adrenoceptor and GNB3 C825T, were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis.Results A total of 227 patients with IVOT and 110 patients with ILVT were included. Genotyping revealed that the 16Gly allele of Arg16Gly variant of β2-adrenoceptor was associated with a higher risk of IVOT (OR:1.40, 95% CI: 1.12-1.75,P=0.003 in the addictive model and OR:. 1.62, 95% CI: 1.14-2.31, P=0.007 in the dominant model). Patients with Gly16Gln27 haplotype also had a higher risk of IVOT (OR: 1.38, 95% CI: 1.11-1.73, P=0.012). Other four variants,including Ser49Gly and Arg389Gly in β1-adrenoceptor, GIn27Glu in β2-adrenoceptor and GNB3 C825T, did not differ between patients with IVOT and controls. In patients with ILVT, no significant difference was found in these five variants compared with controls.Conclusions Arg16Gly in β2-adrenoceptor is significantly associated with IVOT in Chinese Han population. Major genetic variants in β1- and β2-adrenoceptor and GNB3 C825T may not be associated with ILVT. These data suggest a different arrhythmogenic mechanism in IVOT and ILVT.  相似文献   

11.
目的研究解偶联蛋白2(UCP2)基因Ala55Val变异和β3-肾上腺素能受体(β3-AR)基因Trp64Arg变异对2型糖尿病和肥胖症的影响,以及两基因变异是否起协同的作用.方法用聚合酶链反应-限制性片段长度多态性方法,对177名正常对照、173例2型糖尿病病人和119例肥胖症病人进行UCP2基因Ala55Val变异和β3-AR基因Trp64Arg变异的检测.比较分析在不同组间基因型频率、基因型组合、临床变量等的分布差异.联合分析UCP2基因变异和β3-AR基因变异在2型糖尿病和肥胖症的发病中有无协同效应.结果①2型糖尿病和肥胖症组中UCP2基因Ala55Val纯合子变异的基因频率明显高于正常对照组(分别为23.7%、21.8%、7.9%,OR=4.62,P=0.001;OR=3.71,P=0.001);正常人携带Ala55Val基因变异者体重指数(kg/m2)(22.2±1.8)高于非携带者(21.6±2.1).②2型糖尿病组β3-AR基因Trp64Arg纯合子变异的基因频率(52%)明显高于正常组(40%);正常人携带Trp64Arg基因变异者有较高的空腹和口服葡萄糖耐量试验后2 h血糖水平.③当单一的UCP2或β3-AR基因变异时,在2型糖尿病组及肥胖组均与正常人的分布差别无显著意义(P>0.05);当UCP2和β3-AR两基因同时发生变异时,2型糖尿病组和肥胖组的变异基因频率分布则明显高于正常组(OR=3.69,P=0.000;OR=2.57,P=0.009).④携带Val/Val+Trp/Arg基因型组合者与2型糖尿病(OR=10.43,P=0.000)和肥胖者(OR=8.58,P=0.002)的关系最密切.结论UCP2基因Ala55Val纯合子变异明显增加了2型糖尿病和肥胖症发生的危险性;β3-AR基因Trp64Arg纯合子变异与2型糖尿病的发病有明显的相关性;证实了2种微效基因累加起来可以形成明显的表型效应.  相似文献   

12.
目的 :研究单纯性肥胖、2型糖尿病 (T2DM )、胰岛素抵抗与β3-肾上腺能受体 (β3 AR)基因之间的关系。方法 :运用多聚酶链反应 -限制性片段多态性分析 (PCR RFLP)技术分析了 5 3名正常对照者、10 5名单纯性肥胖患者、6 3名T2DM非肥胖患者和 114名T2DM伴肥胖患者的 β3 AR基因外显子 6 4位色氨酸 (Trp)、精氨酸 (Arg)的多态性。结果 :具有Arg等位基因者 ,其腰臀围比 (WHR)、平均血压 (MBP)、收缩压 (SBP)、舒张压 (DBP)、空腹血糖 (FBS)、餐后血糖 (PBS)、空腹胰岛素 (FINS)、餐后胰岛素 (PINS)、空腹C肽 (FCP)、餐后C肽 (PCP)均比Trp纯合组显著性增加 ,而胰岛素敏感指数 (ISI)却明显地降低 ;在非T2DM ,伴有高胰岛素血症的肥胖亚组的Arg等位基因频率明显升高。结论 :Trg Arg多态性的改变导致了胰岛素抵抗、肥胖、T2DM的发生。β3 AR基因是中国汉族人群胰岛素抵抗、肥胖、T2DM的侯选基因  相似文献   

13.
Obesityisassociatedwithinsulinresis tance (IR) ,whichplaysacriticalroleinthedevelopmentoftype 2diabetesmellitus.ThemechanismofIRisrelatedtotheabnormalitiesofinsulinreceptor,pre receptor,post recep tor ,resultingindefectivemetabolicpathwayofglucose,lipidand pr…  相似文献   

14.
目的:探讨β3肾上腺素能受体(β3AR)Trp64Arg基因多态性与胰岛素敏感性的关系.方法:检测88对异卵双生子β3AR Trp64Arg基因多态性.用稳态模式评估法的对数(1ogarithm transformed homeostasis model assessment,lgHOMA)来衡量胰岛素敏感性,分析β3AR Trp64Arg基因多态性与IgHOMA及体质指数(body mass index,BMI)的相关性.结果:Trp64Trp、Trp64Arg和Arg64Arg的基因型频率分别为71.5%,26.7%和1.7%;有β3ARTrp64Arg基因多态性的双生子胰岛素敏感性有降低的趋势,但是统计学差异无显著性(P=0.145).BMI与lgHOMA呈弱正相关(r=0.188,P=0.002),β3AR Trp64Arg基因多态性与BMI的关联统计学差异无显著性(P=0.554).结论:有β3AR Trp64Arg基因多态性的双生子可能更容易导致胰岛素抵抗,但是这一结论还需扩大样本进行进一步的研究.  相似文献   

15.
COMT 基因多态性和抗精神分裂症药物疗效关系的Meta 分析   总被引:1,自引:0,他引:1  
目的:探讨儿茶酚胺氧位甲基转移酶(catechol O-methyltransferase,COMT)Val108/158 Met基因多态性与抗 精神分裂症药物疗效之间的关系,为抗精神分裂症药物的个体化用药提供一定的依据。方法:计算机检索PubMed, Embase,Cochrane Library,中国知网,万方,维普,中国生物医学文献数据库获取相关文献。在评价原始研究质 量,提取有效数据后,采用Stata12.0进行统计分析。结果:共筛选出9篇符合标准的文献,包含868例患者。Meta分 析结果显示各基因型合并后的RR值、95% CI及P值,以患者的总体症状改善情况来评价药物疗效时,Met与Val比较, RR=1.18,95% CI:1.04~1.35,P=0.013;Met/Met与Val/Val比较,RR=1.40,95% CI:1.08~1.82,P=0.010。以患者的阴 性症状改善情况来评价药物疗效时,Met与Val比较,RR=1.24,95% CI:1.05~1.46,P=0.013;Met/Met与Val/Val比较, RR=1.60,95% CI:1.04~2.46,P=0.031。结论:COMT Val108/158Met基因多态性与抗精神分裂症药物疗效显著相关, 其中Met基因为优势基因,对抗精神分裂症药物反应较好。  相似文献   

16.
中国人与日本人β3肾上腺素能受体基因TrP64Arg突变的比较   总被引:11,自引:0,他引:11  
研究β3肾上腺素能受体(β3AR)基因Trp64Arg突变频率及其对体重,血脂、血压1心率及糖尿病发病的影响以及中日民族的差异。方法研究了751例中国人该受体基因突变的临床特征,并与本文第一作者曾在日本做的研究进行了比较。中国人:(1)健康体检查614人;(2)2型糖尿病患者137人。日本人:(1)居民746人;(2)2型糖尿病和/或高脂血症的内分泌代谢病门诊患者371人。均测定了身高,体重、血糖  相似文献   

17.
目的 :研究肥胖、2型糖尿病、胰岛素抵抗与 β3 AR基因之间的关系及其在家系遗传中的规律。方法 :运用PCR RFLP技术分析了 8个肥胖伴糖尿病家系的 β3 AR基因外显子 64位色氨酸 /精氨酸 (tryptophantoarginineTrp64Arg)多态性。 结果 :β3 AR基因与肥胖进行连锁 ,在常染色体显性遗传模式下 ,单个家系 (家系 3 )最大LOD值为 3 .88510 9(θ =2 0 .0 0 0 0 0 )。将 β3 AR基因与 2型糖尿病进行连锁 ,在常染色体显性遗传模式下 ,单个家系 (家系 2 )LOD最大值为 0 .2 2 2 3 3 6(θ =0 .0 0 0 0 0 0 ) ,在常染色体隐性遗传模式下 ,单个家系(家系 4)LOD最大值为 0 .80 5 0 0 3 (θ =0 .0 0 0 0 0 0 0 )。结论 :Trp64Arg多态性改变是部分家系肥胖产生的直接原因  相似文献   

18.
目的:研究儿茶酚-O- 甲基转移酶(catechol-O-methyltransferase,COMT) 基因Val 108/158 Met 多 态性与原发性高血压的相关性。方法:采用聚合酶链反应- 限制性片段长度多态性(polymerase chain reaction– restriction fragment length polymorphism,PCR-RFLP) 方法,检测原发性高血压患者( 高血压组,n=215) 及正 常健康人群( 对照组,n=227)COMT 基因Val 108/158 Met 多态性的分布频率。结果:1)COMT 基因Val/Val, Val/Met 和Met/Met 三种基因型分布频率,以及Val 和Met 等位基因分布频率,在高血压组和对照组之间差异 均无统计学意义( 均P>0.05)。2) 以性别分层后,3 种基因型男女分布频率以及Val 和Met 等位基因男女分布 频率在高血压组和对照组之间差异均无统计学意义( 均P>0.05)。3) 对高血压患者进行危险分层后,危险分层 不同的高血压患者各基因型频率差异均无统计学意义( 均P>0.05)。4)Logistic 回归分析显示体质量指数、血 糖、低密度脂蛋白增高和高血压家族史是原发性高血压的危险因素,而基因型与高血压病的发生无关。结论: COMT 基因Val 108/158 Met 多态性可能与原发性高血压的遗传易感性无关。  相似文献   

19.
Beta肾上腺素能受体3种亚型基因的5位点SNP的基因型分布   总被引:6,自引:1,他引:5  
目的:研究Beta肾上腺素能受体3种亚型基因的5个位点的单核苷酸多态性基因型分布。方法:用DNA提取试剂盒抽提338例受试者外周血白细胞DNA,用聚合酶链反应-限制性片段长度多态性及等位基因特异性PCR技术获得Beta-AR 3种亚型基因的5个位点的SNP基因型。结果:分别获得了338例受试者的Beta-AR 3种亚型基因的5个位点中的每一位点的SNP基因型的自然分布特征。各位点的优势基因型为:Beta2-AR 49位的野生型纯合子Ser/Ser(70%),Betal-AR 389位的野生型纯合子Arg/Arg(63%),Beta2-AR 16位的杂合子Arg/Gly(80%),Beta2-AR 27位的杂合子(Gln/Glu(50%),Beta3-AR 64位的野生型纯合子Trp/Trp(65%)。结论:Beta-AR 3种亚型基因的5位点中每位点的SNP基因型分布是非均匀的且各位点的分布特征是不同的,它是进一步研究其与功能和疾病的关系的基础。  相似文献   

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