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1.
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   

2.
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   

3.
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   

4.
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   

5.
Mutations of connexin43 in fetuses with congenital heart malformations   总被引:10,自引:0,他引:10  
Background Gap junction channels formed by connexin43 (Cx43) protein are important in cardiac morphogenesis, and Cx43 gene is thought to be associated with congenital heart malformation (CHM). This study was undertaken to detect the mutations of Cx43 in fetuses with CHM.Methods Cx43 extron DNA was amplified by PCR from 16 fetuses with a variety of CHM. The PCR products were analyzed by SSCP and DNA sequencing. Thirty children who had no CHM were selected as controls.Results Eight homozygous mutations of Cx43 were observed in a fetus with double outlet right ventricule (DORV) , fiveof the 8 mutations were missense mutations including Arg239Trp, Ser251Thr, Ala253Pro,Pro283Leu and Thr290Asn, and the remaining 3 were silent polymorphisms including Gly252Gly,Pro256Pro and Thr275Thr.No mutations were found in other fetuses and the control group.Conclusions Mutations of Cx43 may be associated with congenital conotruncal anomalies. PCR-SSCP is an effective method for screening the mutations of Cx43.  相似文献   

6.
Objective To explore the molecular mechanism of insulin resistance in the patients with polycystic ovarian syndrome (PCOS ) Methods Polymerase chain reaction, silver staining-single strand conformation polymorphism(PCR-SSCP ) and DNA direct sequencing were used to detect the mutation of insulin receptor (INSR) gene in exon 17~21 with the abdominal wall adipose tissue from 31 patients with PCOS (PCOS Group) and 30 patients with pure hysteromyoma in reproductive lift (Control Group).Results Twenty-two variant SSCP patterns in exon 17 of INSR gene were detected.Direct sequence analysis of exon 17showed that homozygous nonsense mutation was two alleles single nucleotide polymorphism (SNP) at the codon 1058 ( CAC→CAT). Exons 18~21 were not detected with any significantly mutation. The INSR gene His^1058C→T substitution collecting rate and insulin resistance were significantly higher in the PCOS group than in the control group (P=0. 0293, P<0. 05, P<0. 01).Conclusion It is suggested that the SNP in codon 1058 of the INSR gene might be related with the insulin resistance in PCOS patients, which has hereditary tendency.And the missense mutation,nonsense mutation and frameshi ft mutation at exons 18~21 in tyrosine protein kinase region of INSR gene for PCOS patients were not frequently observed.  相似文献   

7.
We assessed genetic and environmental effects on bone development of the hand and wrist,and on key anthropometric measures in Chinese young twins.In total,139 monozygotic and 95 dizygotic twin pairs aged from 5 to 18 years were recruited.The twin correlations of total hand and wrist scores for monozygotic(MZ)and dizygotic(DZ)twins were0.71 and 0.36,respectively.Bivariate model  相似文献   

8.
Objective: Peroxisome proliferator-activated receptor γ (PPARγ) plays a critical role in adipocyte differentiation and the development of type 2 diabetes mellitus (T2DM). Numerous studies across several populations have indicated that Prol2Ala polymorphism of PPARγ is associated with decreased insulin resistance and decreased risk of T2DM. The aims of this study are to develop a simple and sensitive detection of Prol2Ala polymorphism and examined the distribution of this polymorphism in Chinese population. Methods: The PPAR-γ gene fragment containing Prol2Ala variant of 101 T2DM patients and 104 controls were amplified by PCR amplification and the extension reaction was performed using primer that adjacent to the single nuclcotide pelymorphic site in presence of two different dyelabeled terminators. The primer′s speciaUy extending reactions make the increase of their fluorescence polarization(FP) that mean special genotype. The variant frequencies of the two groups were compared. Results: We detected the Prol2Ala variant successfully by TDI-FP method and we found no significant association between this polymorphism and T2DM in case-control study. Conclusion: The TDI-FP technology is a new specific and sensitive method that is suitable for automatic detection of large number of clinical samples. Prol2Ala mutation in PPAR-γ2 gene does not play asignificant role in T2DM risk in Chinese population.  相似文献   

9.
The effects of berberine on the expression of hepatocyte nuclear factor-4α (HNF-4α) in liver of rats with fructose-induced insulin resistance and the molecular mechanism of berberine preventing insulin resistance were investigated. The experimental animals were divided into two groups of 16 animals each. The control group received a control routine diet containing 60% carbohydrate, and the study group a high-fructose diet containing 60% fructose as the sole source of carbohydrate. At the end of 6 weeks these were each subdivided into two groups. One was administered with berberine [187.5mg/(kg·d) in 5g/L carboxymethyl cellulosel] by intragastric intubation and the other group was treated with a vehicle (5g/L carboxymethyl cellulose). The rats were fed on the same dietary regimen for the next 4 weeks. After the experimental period of 10 weeks, plasma glucose, insulin and triglyceride levels were measured. HOMA insulin resistance index (HOMA-IR) was assayed. Immunohistochemistry, semiquantitative RT-PCR and western blot were used to detect the expression of HNF-4α in liver. Compared with control diet, fructose feeding induced hyperinsulinemia, HOMA-IR and increased triglyceride (all P<0.01). Berberine prevented the rise in plasma insulin (P<0.01), HOMA-IR (P<0.01) and triglyceride (P<0.05) in the fructose-fed rats. No change in plasma glucose was seen among these groups. The mRNA and protein expression of HNF-4α was decreased in the fructose-fed rats, but berberine could promote its expression. It was concluded that berberine could prevent fructose-induced insulin resistance in rats possibly by promoting the expression HNF-4α in liver.  相似文献   

10.
Objective To investigate the relationship between insulin resistance and carotid athemsclerosis in patients with potential hyperglycemia. Methods A total of 221 patients were recruited among those with potential hyperglycemia. All participants underwent physical examination, medical history interview, and 75 g oral glucose tolerance test. Venous blood was sampled for measurement of insulin and cholesterol levels. The intima-media thickness (IMT) in bilateral common carotid arteries was observed by B-mode ultrasound. Insulin resistance index was calculated by homeostasis model assessment (HOMA-IR).Subjects were stratified in quintiles according to HOMA-IR values. Risk factors and atherosclerotic parameters were analyzed. Results With HOMA-IR value increase, incidence of impaired glucose tolerance, diabetes mellitus, hypertension, and coronary artery disease increased, the levels of triglyceride (TG), low density lipoprotein cholesterol (LDL-C), fasting plasma glucose, 2 hour plasma glucose, and fasting insulin increased as well, while the level of high density lipoprotein cholesterol (HDL-C) decreased. Meanwhile, all atherosclerotic parameters increased. Multivariate regression analysis showed that TG, total cholesterol, I-IDL-C, LDL-C levels, and In(HOMA-IR) were related to IMT, hence were risk factors for IMT increase. Conclusion Insulin resistance is implicated in atherogenesis.  相似文献   

11.
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   

12.
目的研究单纯性肥胖男性β3肾上腺素能受体(β3-adrenergic receptor,β3-AR)Trp64Arg多态性的分布情况及对肥胖类型的影响。方法利用聚合酶链式反应-限制性片断长度多态性(PCR-RFLP)方法检测单纯性肥胖患者及正常对照β3-AR基因Trp64Arg突变。进一步比较不同类型肥胖中突变的发生率。结果β3-AR基因Trp64Arg突变频率在正常对照组、周围性肥胖组及中心性肥胖患者中分别为16.67%、21.05%、34.78%,Arg等住基因在3组中的频率依次为8.33%、10.53%、19.57%。中心性肥胖患者Trp64Arg突变及Arg等住基因频率较正常对照及周围性肥胖者明显增加,但无统计学差异。结论β3-AR基因Trp64Arg突变可能与男性单纯肥胖者腹内脂肪积聚有关,对此需进一步扩大样本后加以研究。  相似文献   

13.
目的探讨过氧化物酶体增殖物激活受体γ(PPARγ)Pro12Ala基因多态性与慢性肾脏病(CKD)的关系。方法选取CKD患者178例(CKD组)和正常体检健康对照者271例(对照组),应用聚合酶链反应-限制性片段长度多态性技术检测PPARγPro12Ala基因突变,测定研究对象的血压、体质量指数(BMI)、尿白蛋白/尿肌酐、24 h尿蛋白定量、血肌酐、空腹血糖(FBG)、血脂、肾小球滤过率、颈动脉斑块(CAP)数量和颈动脉内膜中层厚度(CIMT)等临床指标。结果 CKD组与对照组患者Pro12Pro、Pro12Ala基因型分布频率比较差异无统计学意义(P>0.05),2组患者Pro、Ala等位基因分布频率比较差异亦无统计学意义(P>0.05)。大量蛋白尿组与蛋白尿组CKD患者Pro12Ala基因型、Ala等位基因频率比较差异均无统计学意义(P>0.05),CKD 25期与CKD 1期患者Pro12Ala基因型、Ala等位基因频率比较差异均无统计学意义(P>0.05)。Pro12Pro基因型CKD患者与Pro12Ala基因型患者BMI、FBG、血压、总胆固醇、高密度脂蛋白-胆固醇比较差异均无统计学意义(P>0.05),但Pro12Pro基因型患者24 h尿蛋白定量、血肌酐、三酰甘油、低密度脂蛋白-胆固醇、CAP数量和CIMT均高于Pro12Ala基因型患者,差异有统计学意义(P<0.05)。结论 PPARγPro12Ala基因多态性与蛋白尿、血脂异常、血管硬化等CKD危险因素有相关性。Ala等位基因可能减少CKD发生发展的高危因素,成为CKD的保护基因。  相似文献   

14.
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   

15.
目的:探讨解偶联蛋白-1(UCP-1)和β3-肾上腺素能受体(β3-AR)基因在肥胖人群中的变异及其对肥胖患者基础代谢率(BMR)和体重指数(BMI)的影响。方法:应用聚合酶链反应产物限制性酶切片段长度多态性检测法测定UCP-1基因A→G(-3826)变异和β3-ARTrp64Arg突变并作基因分型,分析突变等位基因与BMR和BMI的相关性。结果:本研究肥胖人群UCP-1野生型等位基因(A)和突变型等位基因(G)的频率分别为0.7170和0.2899。β3-AR野生型等位基因(Trp64)和突变型等位基因(Arg64)的频率分别为0.8442和0.1558。UCP-1和β3-AR基因均有变异的肥胖患者与该两基因均无变异的肥胖患者相比,BMR降低和BMI增高分别显示极显著意义(P<0.01)和显著意义(P<0.05)。结论:UCP-1基因A→G(-3826)变异和β3-ARTrp64Arg突变与肥胖患者BMR降低和体重增加相关,两基因的变异对BMR和BMI的影响存在加合作用。  相似文献   

16.
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   

17.
目的:探讨PPARγ2基因P12A单核苷酸多态性与2型糖尿病肾病的关系。方法:所选对象根据WHO对糖尿病的标准,对照组55例,2型糖尿病组97例。2型糖尿病组根据每分钟尿蛋白排泄率早期肾病组59例和临床肾病组31例。TaqMan探针检测PPARγ2基因Pr012Ala基因型和等位基因。结果:PPARγ2基因的A等位基因频率在正常组、早期肾病组和临床肾病组中分别为7.7%、6.8%和8.1%,P12A基因型及等位基因的分布频率在正常组、早期肾病组和临床肾病组之间无显著性差异(P〉0.05)。调整病程后,应用logistic回归分析PPAR72基因Prol2Ala单核苷酸多态性与2型糖尿病肾病相关性,结果显示OR值在肾病组的两组间比较OR=0.966,95%IC为0.279~3.344。在早期肾病组和临床肾病组比较,A等住基因携带者在空腹胰岛素、胰岛素抵抗指数、胰岛素敏感指数和尿蛋白排泄率与P等位基因携带者比较有统计学意义(P〉0.05)。结论:PPARγ2基因Prol2Ala单核苷酸多态性与2型糖尿病肾病无明显的相关性。PPARγ2基因A等位基因是2型糖尿病肾病发生发展的保护基因。  相似文献   

18.
BACKGROUND: Peroxisome proliferator-activated receptor (PPAR)gamma is involved mainly in adipocyte differentiation and has been suggested to play an important role in the pathogenesis of insulin resistance and atherosclerosis. We investigated the frequencies of two common polymorphisms of PPARgamma gene, exon 6 C-->T substitution and exon B Pro12Ala in healthy subjects and analyzed the correlations between the different genotypes and insulin resistance, metabolic syndrome and cardiovascular risk factors. METHODS: Anthropometric measurements, fasting glucose, insulin and lipid profiles were measured in 253 Korean females. Homeostatic model assessments and quantitative insulin sensitivity check indices were calculated. Metabolic syndrome was diagnosed according to the NCEP-ATP III guidelines and the Western Pacific Region of WHO for obesity criteria for waist circumference. Polymerase chain reaction (PCR)-restriction fragment-length polymorphism and real-time PCR were performed for genotyping of the DNAs. RESULTS: For C161T polymorphism, allele frequencies were 0.804 and 0.196 for T allele, and 0.947 for proline and 0.053 for alanine. There was no Ala12Ala homozygote in the population. No differences were seen in the mean values of age, body mass index (BMI), blood pressure, fasting blood glucose level, fasting insulin levels, HOMA and QUICKI among different genotypes when analyzed as a whole, except that subjects with Pro12Ala had significantly higher body weight than those with Pro12Pro genotype. However, mean BMI, percent body fat and weight showed significant differences between genotypes in younger age group (< or =50 years). Although overall prevalence of metabolic syndrome had no association with the genotypes, the prevalence of decreased high-density lipoprotein cholesterol component was lower in those with the T allele than in those with the CC genotype. There was no association of the genotypes with glucose tolerance status. When the subjects were divided into four groups according to the combination of the genetic alleles of the two polymorphisms, subjects having Pro12Ala and T allele, simultaneously, showed significantly higher mean weight than those without Ala allele. Pro12Ala polymorphism seems to affect body weight, similar to the previous studies, and the effect was potentiated with the presence of T allele of C161T polymorphism. CONCLUSIONS: Although either polymorphism failed to show significant association with insulin resistance, the fact that the prevalence of decreased HDL-C was lower in those with the T allele of C161T polymorphism suggests that this polymorphism might have a protective effect on atherosclerotic lipid profiles, which needs further investigation.  相似文献   

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