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1.
Objective To analyze the association of variants of hepatocyte nuclear factor-1α (HNF-1α) gene with type 2 diabetes in Chinese population. Methods In 152 unrelated type 2 diabetes patients and 93 unrelated controls, eleven single nucleotide polymorphisms (SNPs) were identified and genotyped. Statistical analyses were performed to investigate whether these SNPs were associated with diabetes status in our samples. Results In the individual SNP study, no SNP differed significantly in frequency between type 2 diabetes patients and controls. In the haplotype analysis, two haplotype blocks were identified. In haplotype block 1, no evidence was found between common HNF-1α haplotypes and type 2 diabetes. However, in haplotype block 2, a common haplotype GCGC formed by four tagging SNPs (tSNPs) was found to be associated with decreased risk of type 2 diabetes (odds ratio OR 0.6011, 95% confidence interval CI 0.4138-0.8732, P=0.0073, empirical P=0.0511, permutation test). A similar trend was also observed in the diplotype analysis, indicating that the increasing copy number of the haplotype GCGC was associated with the decreased frequency of diabetes (P=0.0193). Conclusion The results of this study provide evidence that the haplotype of HNF-1α decreases the risk of type 2 diabetes in Chinese individuals.  相似文献   

2.
Background Apelin is an adipokine that contributes to the pathogenesis of type 2 diabetes. The plasma levels of apelin increased in obese patients and diabetic subjects. This study aimed to investigate the effects of apelin genetic variants on type 2 diabetes and related quantitative traits. Methods We selected three single nucleotide polymorphisms (SNPs) that could capture all common variants in APLN gene region and genotyped them in 1892 type 2 diabetic patients and 1808 normal glucose regulation controls. The clinical features related to glucose metabolism were measured in the controls. The comparison of allele and genotype distribution in the cases and controls were performed by using X2 tests. The association between SNPs and quantitative traits were analyzed using Wilcoxon's rank-sum test. Results None of the SNPs or haplotypes showed evidence of association to type 2 diabetes. However, rs2235306 was nominally associated with fasting plasma glucose levels in the male subjects with normal glucose regulation ((4.93±0.03) vs (5.01±0.03) mmol/L, P=0.04). No significant difference was observed between all three SNPs and other variables. Conclusions APLN SNP rs2235306 was associated with fasting plasma glucose levels in males. It suggests that APLN genetic variants may contribute to clinical features related to glucose metabolism in Chinese population.  相似文献   

3.
Objective To analyze the association of variants of hepatocyte nuclear factor-1α (HNF-1α) gene with type 2 diabetes in Chinese population. Methods In 152 unrelated type 2 diabetes patients and 93 unrelated controls, eleven single nucleotide polymorphisms (SNPs) were identified and genotyped. Statistical analyses were performed to investigate whether these SNPs were associated with diabetes status in our samples. Results In the individual SNP study, no SNP differed significantly in frequency between type 2 diabetes patients and controls. In the haplotype analysis, two haplotype blocks were identified. In haplotype block 1, no evidence was found between common HNF-1α haplotypes and type 2 diabetes. However, in haplotype block 2, a common haplotype GCGC formed by four tagging SNPs (tSNPs) was found to be associated with decreased risk of type 2 diabetes (odds ratio [OR] 0.6011, 95% confidence interval [CI] 0.4138-0.8732, P=0.0073, empirical P=0.0511, permutation test). A similar trend was also observed in the diplotype analysis, indicating that the increasing copy number of the haplotype GCGC was associated with the decreased frequency of diabetes (P=0.0193). Conclusion The results of this study provide evidence that the haplotype of HNF-1α decreases the risk of type 2 diabetes in Chinese individuals.  相似文献   

4.
Objective To investigate the association between the polymorphism of codon-54 of the fatty acid binding protein 2 (FABP2) gene and patients with type 2 diabetes, and how to infect metabolism of lipoprotein. Methods The Ala54Thr variation of FABP2 was detected by PCR and Hae-Ⅱ digestion in 225 Chinese subjects, including 117 cases of type 2 diabetes mellitus and 108 cases of normal controls. All cases were detected for fasting plasma lipoprotein. Results (1)The polymorphism restriction site of codon-54 of FABP2 gene results in the substitution of threonine(Thr) for alanine(Ala). Of the 117 diabetic patients screened, 64 (54.7%) were heterozygous, 32 (27.4%) were homozygous for Ala-54 allele and 21 (17.9%) were homozygous for the Thr-54 allele. (2)The frequence of genotype Ala54/Thr54 and Thr54/Thr54 significiantly increased in the type 2 diabetes as compared with that in healthy subjects (P:0.018).(3)The odds ratio of FABP2 genotype Ala54/Thr54 and Thr54/Thr54 for the patients with type 2 diabetes was 1.97(95% confidence intervals is 1.13-3.44). (4)The frequency of the FABP2 mutant thr54 allele was similar in men and women (33.3% and 32.0%, respectively, P=0.675). (5)The patients with type 2 diabetes who carry Ala54/Thr54 and Thr54/Thr54 genotype had a significantly higher level of fasting plasma triglyceride (P=0.003) and lower level of high density lipoprotein cholesterol (HDL-C) (P=0.001)than those with the wild-type. Conclusions (1)FABP2 gene polymorphism seems to be significantly associated with type 2 diabetes; the codon-54 of mutant genotypic frequencies were in Hardy-Weinberg equilibrium. (2)The FABP2 ala54thr polymorphism appears to have no significant difference in men and women. (3)FABP2 polymorphism may have a certain contribution to the abnormity of lipoprotein metabolism in individuals.  相似文献   

5.
To investigate the distribution of single nucleotide polymorphisms (SNPs) in CAPN10 gene in Chinese population and their relation with type 2 diabetes mellitus in Han people of Northern China. Methods CAPN10 gene was sequenced to detect SNPs in different nationalities of China. Five SNPs were chosen to perform case-control study and haplotype analysis in 156 normal Han people of Northern China and 173 type 2 diabetes. One SNP was also analyzed with transmission-disequilibrium test (TDT) and sib transmissiondisequilibrium test (STDT) in 68 type 2 diabetes pedigrees (37Tpeople). Results A total of 40 SNPs were identified in length of 8 936bp, with an average of 1 in every 223bp. The SNPs in CAPN10 gene did not distribute evenly and the SNPs in Chinese were different from those reported in Mexican American. There was no significantly statistical difference in the allele frequency of the 5 SNPs between case and control, and the haplotype frequencies in the two groups were not significantly different. No positive results was found in TDT and STDT analysis. Conclusions The SNP distribution of CAPN10 gene differs in different nationalities. The studied SNPs in CAPN10 gene may not be the major susceptibility ones of type 2 diabetes mellitus in Han people of Northern China.  相似文献   

6.
Background Estrogen might play an important role in type 2 diabetes mellitus pathogenesis. A number of polymorphisms have been reported in the estrogen receptor alpha (ERα) gene (also named ESR1), including the XbaⅠ and PvuⅡ restriction enzyme polymorphisms of ESR1, which may be involved in disease pathogenesis. The aim of this study was to determine whether ER0t gene polymorphisms are associated with type 2 diabetes mellitus and serum lipid level. Methods Two hundred and ninety-nine patients with type 2 diabetes mellitus were compared with three hundred and forty-one health controls of Guangzhou in China, both were male and postmenopausal female residents at 51--70 years. ESR1 genotyping was performed using polymerase chain reaction (PCR) and PvulI and XbaI restriction fragment length polymorphism (PCR-RFLP) analysis. Results ESR1 allelic frequencies of P, p and X, x alleles were 0.408, 0.592; 0.360, 0.640 in the type 2 diabetes mellitus group and 0.318, 0.682; 0.328, 0.672 in the control group, respectively. In case-control study, there was significant difference in PvuⅡ, but not XbaⅠ, allele frequency between the type 2 diabetes mellitus and control groups (P=0.001 and P=0.122). When the group was separated into men and women, the difference was significant in women (P〈0.001) but not in men (P=0.854) with the PvulI genotype, and the effect of PvulI variant on the development of type 2 diabetes mellitus was improved with aging. In addition, PvulI genotype was associated with blood glucose [fasting blood glucose (FBG), postprandial blood glucose (PBG)] and serum lipid [total cholesterol (TC) and low density lipoprotein (LDL)-c] concentration in healthy women. Conclusions PvuII polymorphism of ESRI increases susceptibifity to type 2 diabetes mellitus in Chinese Guangzhou women. ESR1 variants may also impact serum lipid metabolism, which might provide a mechanism connecting ESR1 to type 2 diabetes.  相似文献   

7.
8.
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   

9.
Wang G  Li Q  Niu T  Chen C  Xu X 《中华医学杂志(英文版)》2002,115(9):1308-1311
Objective To determine the relationships of Met416Val and XbaI polymorphism of muscle glycogen synthase (GYS1) gene and Trg64Arg variant of the β3-adrenergic-receptor (β3-AR) gene with type 2 diabetes mellitus (DM) and its intermediate phenotypes in the Chinese population. Methods Polymerase chain reaction-oligonucleotide ligation assay and restriction fragment length polymorphism assay were used to evaluate the GYS1 and β3-AR gene polymorphisms in 102 pairs of case-control Chinese spouses.Results Subjects with Met416Val variant had a significantly higher 2-hour post-glucose level than subjects without this variant had in diabetic group (P=0.032).The Met416Val polymorphism of GYS1 gene was not significantly associated with the risk of type 2 DM (adjusted OR=1.67; 95% CI: 0.73-3.81, P=0.223). Subjects with Trp64Arg variant had a significantly higher serum uric acid level than subjects without this variant had in diabetic group (P=0.034). The combination of BMI and Arg64 allele carrier of the β3-AR gene increased the diabetic risk over four-fold (adjusted OR=4.00; 95%CI: 1.53-10.45, P=0.005).Conclusions In the Chinese population, Met416Val polymorphism is identified in a subgroup of diabetic subjects with high 2-hour post-glucose.It will explain why some diabetic patients appear to be genetically predisposed to developing high postpradial glucose level.The presence of the Arg64 allele in the β3-AR gene may predispose patients to higher serum uric acid level.  相似文献   

10.
Background KCNJ11, ABCC8, PPARG, and HNF4A have been found to be associated with type 2 diabetes in populations with different genetic backgrounds. The aim of this study was to test, in a Chinese Han population from Beijing, whether the genetic variants in these four genes were associated with genetic predisposition to type 2 diabetes. Methods We studied the association of four representative SNPs in KCNJ11, ABCC8, PPARG, and HNF4A by genotyping them using ABI SNaPshot Multiplex System in 400 unrelated type 2 diabetic patients and 400 unrelated normoglycaemic subjects. Results rs5219(E23K) in KCNJ11 was associated with genetic susceptibility to type 2 diabetes (OR=1.400 with 95% CI 1.117 1.755, P=0.004 under an additive model, 0R=1.652 with 95% CI 1.086 2.513, P=0.019 under a recessive model, and OR=1.521 with 95% Cl 1.089 2.123, P=0.014 under a dominant model) after adjusting for sex and body mass index (BMI). We did not find evidence of association for ABCC8 rs1799854, PPARG rs1801282 (Pro12Ala) and HNF4A rs2144908. Genotype-phenotype correlation analysis revealed that rs1799854 in ABCC8 was associated with 2-hour postprandial insulin secretion (P=0.005) after adjusting for sex, age and BMI. Although no interactions between the four variants on the risk of type 2 diabetes were detected, the multiplicative interaction between PPARG Pro12Ala and HNF4A rs2144908 was found to be associated with 2-hour postprandial insulin (P=-0.004 under an additive model for rs2144908; and P=0.001 under a dominant model for rs2144908) after adjusting for age, sex and BMI, assuming a dominant model for PPARG Pro12Ala. Conclusions Our study replicated the association of rs5219 in KCNJ11 with type 2 diabetes in Chinese Han population in Beijing. And we also observed that ABCC8 as well as the interaction between PPARG and HNF4A may contribute to post-challenge insulin secretion.  相似文献   

11.
目的了解中国汉族人群PGC-1α基因Thr394Thr和Gly482Ser变异与2型糖尿病的相关关系。方法招募350名中国南方汉族2型糖尿病先证者及其一级亲属,抽提外周血DNA。应用聚合酶链反应邛艮制性片段长度多态性(PCR—RFLP)分析和DNA直接测序技术鉴定PGC-1α基因型。基于2型糖尿病家系,采用单倍型相对危险度分析(HRR)和传递不平衡检验(TDT)方法分析Thr394Thr和Gly482Ser变异及其单倍型与2型糖尿病的关系。结果基于2型糖尿病家系的HRR分析显示,PGC-1α基因482Ser(A)等位基因更多向子代传递(x2=7.2170,P=0.0072,HRR=1.4496),而Thr394Thr(G/A)等位基因在传递与未传递两组间分布频率差异无统计学意义(x2=2.9557,P=0.0856,HRR=0.7638)。TDT分析提示,394Thr(A)-482Ser(A)单倍型在两组问分布差异有统计学意义(x2=33.160,P=0.002),且与2型糖尿病呈连锁不平衡关系(X2=4.6841,P=0.0292)。结论394A--482A联合变异可能增加了中国人患糖尿病的风险。  相似文献   

12.
[目的]探讨PGC-1基因6个单核苷酸多态性(SNPs)在延边地区朝鲜族和汉族人群中的分布情况.[方法]以172名延边地区朝鲜族及汉族正常人群为研究对象,6个SNPs位点(Ser 74 Leu,IVS2+52C>A,Asp 475 Asp,Gly 482 Ser,Thr528 Thr,Ler 577 Ser)均来自PGC-1基因的2个模块.采用聚合酶链反应-单链构象多态性(PCR-SSCP)给Ser 74 Leu,IVS 2+52C>A2个等位基因位点检测突变样本,对异常片段进行直接测定序列;对Asp475Asp,Gly 482 Ser,Thr 528 Thr,Ler 577 Ser4个等位基因位点行PCR扩增后直接测定序列.[结果]延边地区朝鲜族及汉族人群PGC-1基因Ser 74 Leu,IVS2+52 C>A,Asp 475 Asp,Gly 482 Ser(G>A),Thr 528 Thr(G>A),Ler 577 Ser6个位点等位基因频率及单体型频率分布间差异均无统计学意义.[结论]延边地区朝鲜族及汉族人群PGC-1基因6个SNPs位点等位基因频率及单体型频率分布间无明显差异.  相似文献   

13.
目的:旨在探讨过氧化物酶增殖激活受体γ协同激活因子-1基因Thr394Thr多态性及Gly482Ser多态性与蒙古族高血压的关系.方法:随机选取蒙古族高血压病人107例,蒙古族正常对照168例.采用聚和酶链反应(PCR)限制性片段长度多态性(RFLP)技术进行基因型检测.结果:①内蒙古地区蒙古族人群中,高血压病患者PGC-1α基因Thr394 Thr多态性的基因型以GG基因型为主,健康对照者PGC-1α基因Thr394Thr多态性的基因型以GA基因型为主,高血压组与正常组相比有显著性差异(P=0.000<0.05).②内蒙古地区蒙古族人群中,高血压病患者与健康对照者PGC-1α基因Gly482Ser多态性的基因型均以GA基因型为主,高血压组与正常组相比没有显著性差异(P=0.893>0.05).结论:PGC-1α基因Thr394Thr多态性和Gly482Ser多态性存在种族差异,在内蒙古地区蒙古族人群中,PGC-1α基因Thr394 Thr多态性可能是高血压发病的遗传学因素,而Gly482Ser多态性可能与高血压发病无关.  相似文献   

14.
[目的]研究过氧化物酶体增殖物激活受体γ共活化物-1α(PGC-1α)G1y482Ser基因多态性与2型糖尿病发病的相关性。[方法]选取大连居住的汉族人2型糖尿病病人(DM)140例和非糖尿病对照(NC)88人;用聚合酶链反应(PCR)-限制性内切酶技术检测PGC—1α G1y482Ser基因型。[结果]DM组Ser/Ser基因型分与NC组比较差异有显著性意义(χ^2=10.969,P=0.004),按性别分层后男性DM组与NC组比较差异无显著性意义(χ^2=3.601,P=0.165),而女性DM组与NC组比较差异有显著性意义(χ^2=11.02,P=0.004)。在NC组和DM组,随Ser等危基因增加,空腹C肽和2h C肽呈逐渐降低趋势,但只有Ser/Ser与Gly/Gly两基因型之间相比差异有显著性意义(P〈0.05)。在NC组,各基因型之间的胰岛素抵抗之间比较差异无没有显著性意义(P〉0.05)。[结论]PGC-1 Gly482Ser多态性可能与女性2型糖尿病的发病相关,Ser/Ser型携带者c肽水平更低。  相似文献   

15.
[目的]探讨延边地区朝鲜族及汉族人群PGC-1基因Thr 394 Thr多态性与Ⅱ型糖尿病的相关性.[方法]采用聚合酶链反应-单链构象多态性(PCR-SSCP)方法对104例糖耐量正常者和113例Ⅱ型糖尿病患者的PGC-1基因Thr 394 Thr多态性基因型进行对照研究.[结果]朝鲜族和汉族正常人PGC-1基因Thr 394 Thr多态性的A等位基因频率分别为23.3%,20.7%;糖耐量正常组及Ⅱ型糖尿病组人群的PGC-1基因Thr 394 Thr多态性的A等位基因频率均为22.1%.[结论]延边地区朝鲜族和汉族人群PGC-1基因Thr 394 Thr多态性间无显著性差异;PGC-1基因Thr 394 Thr多态性与Ⅱ型糖尿病发病无相关性.  相似文献   

16.
摘要:目的研究过氧化物酶体增殖物激活受体-1协同刺激因子-1α(peroxisomeproliferators—activatedreceptor-1coacti—vator-1α,PGC-1α)基因Gly482Ser位点多态性与飞行人员代谢综合征(metabolicsyndrome,MS)的相关性。方法采用聚合酶链反应一限制性片段长度多态性技术检测42名MS飞行人员和42名健康对照飞行人员PGC-1α基因Gly482Ser位点的多态性。结果飞行人员MS组PGC-1α基因Gly482Ser位点GG、GA及AA基因型构成与对照组存在统计学差异(P〈0.05)(在MS组为28.6%、45.2%和26.2%,而在对照组为52.4%、38.1%和9.5%),且MS组A等位基因频率明显高于对照组俨〈0.01)(在MS组为48.8%,在对照组为28.6%)。结论PGC-1α基因Gly482Ser位点多态性可能与飞行人员MS相关,A等位基因可能为一个易感基因。  相似文献   

17.
为探讨中国人2型糖尿病与胰高糖素受体(GCG-R)基因40号密码子的错义突变(Gly40Ser)是否存在关联,运用聚合酶链反应-限制性片段长度多态性(PCR-RFL-P)分析方法在160例无亲缘关系之中国云南昆明地区汉族人(2型糖尿病患者100例,健康对照者60例)中对GCG-R基因Gly40Ser突变进行了检测。结果显示:所有研究对象中无论是2型糖尿病患者还是健康对照者均无一例存在GCG-R基因  相似文献   

18.
目的:探讨胰岛素受体底物-1(IRS-1)基因Gly971Arg突变与非胰岛素依赖性糖尿病(NIDDM)的相关性。方法:采用多聚酶链式反应-限制性片段长度多态性(PCR-RFLP)分析方法,对60例NIDDM患者和30例正常个体IRS-1基因Gly971Arg突变进行筛查。结果:60例NIDDM患者中检测出2例Gly971Arg突变者,30例正常人中没有发现突变者。结论:IRS-1基因Gly971Arg突变在NIDDM患者中出现频率较正常人略高,Gly971Arg突变对IRS-1活性的影响及其在NIDDM发病中的作用有待进一步研究。  相似文献   

19.
斯琴  傅研  王旭东  黄允瑜 《中国医药导刊》2012,14(6):930-931,933
目的:探讨脂肪酸结合蛋白(I-FABP)2基因编码区exon2第54位点的多态性与2型糖尿病(DM)发病风险的相关性。方法:采用随机化同期平行病例-对照试验分子流行病学研究方法,2型DM患者117例,正常对照组108例。应用聚合酶链反应(PCR)技术检测225例样本I-FABP2基因Hae-II酶切位点的多态性。结果:(1)样本人群的I-FABP2基因编码区exon2存在Hae-II酶切位点,可产生多态性片段:野生型I-FABP2Ala54/Ala54;变异型I-FABP2Ala54/Thr54;Thr54/Thr54。(2)在DM组变异型I-FABP2Ala54/Thr54及Thr54/Thr54基因型频率显著高于正常对照组(P<0.05)。(3)I-FABP2 Ala54/Thr54;Thr54/Thr54基因携带者比野生型基因携带者发生2型DM的风险OR值为1.97(95%CI,1.13~3.44)。(4)I-FABP2基因54位密码子的变异频率在男性及女性中近似相等(P>0.05)。结论:I-FABP2基因编码区exon2第54位点的多态性与2型DM发病风险的相关;携带I-FABP2基因变异型Ala54/Thr54;Thr54/Thr54的个体增加发生2型DM的风险。  相似文献   

20.
目的 探讨晚期糖基化终产物受体(RAGE)基因Glv82Ser多态性在中国汉族人中的分布特点和对中国2型糖尿病易感性的影响.方法 应用多聚酶链反应-限制性片段长度多态性方法检测194例2型糖尿病患者和546例非糖尿病对照者的Gly82Ser多态性基因型.结果 中国人RAGE基因Gly82Ser多态基因型以GG型、等位基因以G型为主,其频率分布显著高于其他国家和种族.2型糖尿病患者和非糖尿病对照者间,RAGE基因Gly82Ser多态性的基因型(GG、GS、SS)频率或等位基因(G、S)分布皆无显著性差异(P>0.05).结论 RAGE基因Gly82Ser多态性与中国2型糖尿病的发病、发展无关,提示RAGE基因Gly82Ser并非中国2型糖尿病的易感基因.然而,与其他国家、种族相比,RAGE基因Gly82Ser多态性在中国汉族人群、中国2型糖尿病人群呈高分布频率.  相似文献   

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