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1.
UCP基因A→G(-3826)变异与中国人2型糖尿病脂代谢、体脂含量及分布的关系 总被引:4,自引:0,他引:4
目的观察解偶联蛋白(UCP)基因A→G(-3826)变异与2型糖尿病脂代谢,体脂含量及分布的关系。方法238例中国人(其中糖耐量正常者132例,2型糖尿病106例)及64例白种人用PCRRFLP检测UCP基因A→G(-3826)变异。体脂分布参数用核磁共振测定。结果中国人与白种人UCP基因A→G(-3826)变异的基因型及等位基因频率分布存在显著差异。(P值分别为2.03×10-6及6.8×10-7)。“G”等位基因与2型糖尿病男性腹内脂肪(VA)增加(P=0.026)、2型糖尿病女性腹部皮下脂肪(SA)减少(P=0.014)、股部皮下脂肪(FA)减少(P=0.042)及TC增高(P=0.002)有关。Logistic回归分析发现:UCP基因在2型糖尿病男性中与VA(P=0.0130)及TG(P=0.0052)有关,在2型糖尿病女性中与FA(P=0.0096)有关。结论UCP基因中“G”等位基因与2型糖尿病者腹内脂肪的绝对(表现于男性)或相对(表现于女性)的增加有关。UCP基因或与UCP基因A→G(-3826)变异处于连锁不平衡的邻近基因的突变可能参与人类体脂分布的调节。 相似文献
2.
ApoE基因多态性与中国人2型糖尿病及其心血管并发症的关系 总被引:4,自引:2,他引:4
目的为研究载脂蛋白E(ApoE)基因多态性与2型糖尿病及其心血管并发症的关系。方法以载脂蛋白E(ApoE)基因为候选基因,运用聚合酶链反应限制性片段长度多态性(PCRRFLP)方法检测了112例2型糖尿病患者及60例正常对照者的ApoE基因型。结果两组研究对象其ε3、ε2和ε4等位基因的分布频率分别为0.844,0.093,0.063和0.867,0.083,0.050(P>0.05),说明ApoE基因多态性与中国人2型糖尿病发病无相关性,通过比较2型糖尿病患者不同ApoE基因型与其血脂指标的关系发现:ApoE基因多态性与血总胆固醇水平(P=0.0029)及血低密度脂蛋白(LDL)C水平(P=0.0021)相关,携带ε4等位基因的个体具有较高的TC及LDLC水平,而携带ε2等位基因的个体具有较低的TC及LDLC水平。ApoE基因多态性与2型糖尿病伴高血压无相关(P=0.111)。携带ε4等位基因的患者冠心病发病率明显较携带其他等位基因患者为高(P=0.008)。结论ε4等位基因可能是2型糖尿病合并冠心病的一个危险因子 相似文献
3.
2型糖尿病合并冠心病AT1A/C多态性研究 总被引:1,自引:0,他引:1
目的 AT1的All66C基因多态性与2型糖尿病、2型糖尿病合并冠心病的关联。方法用聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP)探查AT1的All66C 基因多态在正常对照组(73例)、单纯2型糖尿病组(简称糖尿病组80例)、2型糖尿病合并冠心病组(简称合并冠心病组43例)中的基因频率分布,并分析其对以上疾病发病因素的影响。结果 2型糖尿病合并冠心病组 AT1的 1166C等位基因频率明显高于对照组(X2=6. 02,P<0. 05)和单纯糖尿病组(X2=5.71,P<0.05)。结论我们的结果提示携带AT11166C等位基因的2型糖尿病患者比携带A等位基因更易罹患冠心病。 相似文献
4.
血管紧张素Ⅰ转化酶基因多态和2型糖尿病肾病相关性研究 总被引:1,自引:0,他引:1
血管紧张素Ⅰ转化酶(ACE)基因多态和2型糖尿病肾病(DN)的关系。方法用PCR技术检测102例中国汉族2型糖尿病患者ACE基因I/D多态基因型。结果DN组(n=36)和无DN组(n=49)相比,D型等位基因和DD基因型糖频率升高(分别为59.7%vs38.8%,X^2=7.30,33.3%vs12.2%,X^2=5.53),有显著性差异(P〈0.05),病程≤5年合并DN组(n=11)与病程〉5 相似文献
5.
醛糖还原酶基因5‘端(AC)n多态性对2型糖尿病患者红细 … 总被引:2,自引:0,他引:2
目的 探讨醛糖还原酶(AR)基因5’端(AC)n的多态性对2型糖尿病(DM)红细胞AR活性的影响。方法 163例2型MD分为无微血管病变(NDC)组(66例)和微血管病变(DMAP)组(97组),正常对照(CON)组42例;另按AR基因5’端(AC)n的等位基因类型分为DM携带Z+2等位基因(DZ+2)组(54例)、DM携带Z-2等位基因(DZ-2)组(35例)、DM同时携带Z+2和Z-2等位基因 相似文献
6.
瘦素受体基因Gln223Arg变异与上海地区糖尿病患者代谢紊乱及合并高血压的关系 总被引:7,自引:0,他引:7
目的研究瘦素受体基因Gln223Arg变异与Ⅱ型糖尿病代谢紊乱及其合并高血压的关系。方法运用聚合酶链反应限制性片段长度多态性(PCRRFLP)方法测定无亲缘关系,且有完整临床资料的359例上海地区汉人的瘦素受体基因Gln223Arg变异的基因型(包括193例糖耐量正常者及166例Ⅱ型糖尿病患者)。局部体脂分布参数由核磁共振仪测定。结果Ⅱ型糖尿病不同性别、不同瘦素受体基因Gln223Arg变异的高血压合并频率比较发现,瘦素受体基因Gln223Arg变异与Ⅱ型糖尿病男性合并高血压相关(P=0008)。“A”等位基因与Ⅱ型糖尿病男性较高的收缩压(P=0.0026)及舒张压(P=0.0084)相关。logistic回归分析证实,该基因变异是Ⅱ型糖尿病男性合并高血压的独立风险因子(P=0.0031),且主要与收缩压相关(P=0.0054)。携带“A”等位基因的Ⅱ型糖尿病男性其高血压发生的比数比(OR)为2.825(95%可信限为1.418、5.627)。结论瘦素受体基因Gln223Arg变异与Ⅱ型糖尿病男性合并高血压相关,且主要表现与收缩压相关。 相似文献
7.
肾素基因与中国人2型糖尿病及其微血管病变,冠心病和高 … 总被引:1,自引:0,他引:1
在421例中国人中应用肾素基因的一个四核苷酸(ACAG)串列重复顺序多态标记(Simpletandemrepeatpolymorphism,STRP)研究肾素(REN)基因与中国人2型糖尿病,冠心病及高血压以及糖尿病肾病,糖尿病视网膜病变的相关情况,中国人肾素基因的(AGAG)n-STRP基因型中以4/4型,等位基因以4型(AGAG重复次数=8)为最多见。(AGAG)n-STRP频率分布在种族间差 相似文献
8.
肾素基因与中国人2型糖尿病及其微血管病变、冠心病和高血压的相关性 总被引:3,自引:0,他引:3
在421例中国人中应用肾素基因的一个四核苷酸〔ACAG〕串列重复顺序多态标记(Simpletandemrepeatpolymorphism,STRP)研究肾素(REN)基因与中国人2型糖尿病、冠心病及高血压以及糖尿病肾病、糖尿病视网膜病变的相关情况。中国人肾素基因的〔ACAG〕n_STRP基因型中以4/4型,等位基因中以4型(ACAG重复次数=8)为最多见。〔ACAG〕n_STRP频率分布存在种族间差异。在2型糖尿病、冠心病、高血压间及各组与对照组间以及2型糖尿病中有或无糖尿病肾病、视网膜病变组间肾素基因〔ACAG〕n_STRP频率分布均无明显差异。结果表明:中国人的2型糖尿病及糖尿病微血管病变以及冠心病、高血压的遗传因素中,肾素基因不是主要参与者 相似文献
9.
大多功能蛋白酶2基因与1型糖尿病易感性及发病年龄的关系 总被引:2,自引:1,他引:1
目的研究大多功能蛋白酶(LMP)2基因与1型糖尿病(1DM)及其发病年龄的关系。方法71例1DM患者及86名健康人参加,根据发病年龄将1DM患者分为3组(≤14岁组,15~30岁组,≥31岁组);采用聚合酶链反应限制性片段长度多态性(PCRRFLP)技术进行LMP2基因分型。结果LMP2R/R、LMP2R/H、LMP2H/H、LMP2R及LMP2H频率在1DM组分别为40.9%、53.5%、5.6%、67.6%、32.4%,在正常对照组分别为57.0%、32.6%、10.4%、73.3%、26.7%。LMP2R/H频率在1DM组显著高于对照组(P<0.01),而LMP2R/R频率则显著低于对照组(P<0.05);LMP2各基因型及等位基因频率在1DM各发病年龄组之间无显著性差异(P>0.05)。结论LMP2R/H可能为1DM的易感基因型,LMP2R/H阳性者患1DM的危险性增加;LMP2R/R可能是1DM的保护基因型,LMP2R/R阳性者患1DM的危险性降低;LMP2各个基因型及等位基因与1DM的发病年龄无 相似文献
10.
2型糖尿病病因的多因素分析 总被引:1,自引:0,他引:1
运用多因素非条件Logistic回归分析的方法。对山东地区汉族2型糖尿病患者107例和正常对照者105例的多个糖尿病修选基因及部分环境因素进行分析,结果发现2型糖尿病的发生与D2S140等位基因2(OR=13.0094,P=0.0036)、GCK等位基因5(OR=10.1699,P=0.0345)及环境因素中的年龄(OR=1.5058,P=0.0293)、TG(OR=2.9105,P=0.0075)、apoB(OR=2.7481,P=0.0252)、LP(a)(OR=1.0031,P=0.0021)呈正相关,与FABP2基因无相关性,疾病的妻生与D2S140等位基因6(OR=0.0717,P=0.0001)、GCK等位基因2(OR=0.2237,P=0.0006)及HDL-c(OR=0.5249,P=0.008 相似文献
11.
AIMS: Recently an (A-C)n dinucleotide repeat polymorphic marker in the 5'-region of the ALR2 gene encoding aldose reductase was found to be associated with diabetic retinopathy in the Chinese population in Hong Kong, and with nephropathy and neuropathy in the British Caucasian population. The present study assessed the association between the polymorphism and microvascular complications in Japanese patients with Type 2 diabetes mellitus. METHODS: DNA from 87 Japanese patients with Type 2 diabetes mellitus and 90 control subjects with normal glucose tolerance were typed for the polymorphic marker by polymerase chain reaction and direct sequencing. RESULTS: Six alleles, namely Z-12, Z-6, Z-4, Z-2, Z, and Z+2 were identified. There was no significant difference in allele distribution between diabetic patients and controls. The Z-2 allele frequency was significantly higher in subjects with diabetic retinopathy than those without retinopathy (0.35 vs. 0.20, P=0.039), suggesting that aldose reductase is involved in the development of diabetic retinopathy. In contrast, the microsatellite marker was not associated with diabetic nephropathy, peripheral or autonomic neuropathy. The discrepancy may be partly attributable to the low frequency of Z+2 allele in the Japanese subjects. CONCLUSIONS: The (A-C)n dinucleotide repeat polymorphism may be a useful genetic marker to screen for patients at high risk of retinopathy. 相似文献
12.
Association between the (AC)(n) dinucleotide repeat polymorphism at the 5'-end of the aldose reductase gene and the occurrence of diabetic nephropathy was conducted. We examined eight studies consisting of ten Caucasian type 1 diabetes mellitus case-control comparisons and eight studies consisting of nine type 2 diabetes mellitus case-control comparisons, which were based on our inclusion criterion and available in the literature. The meta-analysis demonstrated a large heterogeneity among the studies on the type 1 diabetic subjects and a significant association was observed between the (AC)(n) dinucleotide repeat polymorphism at the 5'-end of the aldose reductase gene and diabetic nephropathy. The Z-2 allele appeared to be a genetic risk factor for susceptibility to diabetic nephropathy with a random effects odds ratio (OR) of 1.40 (95% confidence interval, CI (1.07, 1.84)). The Z+2 allele showed a protective effect on diabetic nephropathy with a random effects OR of 0.77 (95% CI (0.65, 0.91)). The meta-analysis, however, showed no association between the genetic polymorphism and diabetic nephropathy in type 2 diabetic subjects. Neither the risk Z-2 allele nor the protective Z+2 allele in type 1 diabetic subjects appeared to have an effect on nephropathy in type 2 diabetic subjects, while their fixed effects OR was 1.09 (95% CI (0.96, 1.22)) and 0.88 (95% CI (0.67, 1.15)) respectively. The current meta-analysis demonstrated a correlation between the (AC)(n) dinucleotide repeat polymorphism and the occurrence of diabetic nephropathy in Caucasian type 1 diabetic subjects in contrast to type 2 diabetic subject population in which such an association could not be demonstrated. 相似文献
13.
目的 对中国人醛糖还原酶基因5'端(AC)n多态性与2型糖尿病合并糖尿病肾病相关性的研究进行meta分析.方法 通过文献检索收集2007年4月以前发表的中国人醛糖还原酶基因5'端(AC)n多态性与2型糖尿病合并糖尿病肾病相关性的病例-对照研究,剔除不符合要求的文献,以漏斗图检验入选文献的发表偏倚,并根据各入选文献的同质性检验结果进行数据合并,计算总OR值,meta分析采用Review Manager 4.2版统计软件.结果 共8篇文献符合条件纳入研究,入选文献无明显发表偏倚,各文献同质性检验显示有关Z-2(χ2=18.20,P=0.01)、Z+2(χ2=35.30,P<0.01)等位基因分布情况的文献间均存在显著异质性.Z~2等位基因增加2型糖尿病肾病的易感性(OR=1.72,95%CI 1.25-2.36,P<0.01),Z+6等位基因对2型糖尿病患者肾脏具有保护作用(OR=0.66,95%17/0.45-0.98,P=0.04),Z+2等位基因对糖尿病肾病的易感性无影响(OR=0.73,95%CI 0.47-1.12,P=0.15).结论 醛糖还原酶基因5'端(AC)n多态性与中国人2型糖尿病合并糖尿病肾病易感性相关,Z-2等位基因可能是2型糖尿病患者糖尿病肾病的易感基因,Z+6等位基因可能对2型糖尿病患者肾脏具有保护作用. 相似文献
14.
Aldose reductase gene polymorphism is associated with progression of diabetic nephropathy in Japanese patients with type 1 diabetes mellitus 总被引:5,自引:0,他引:5
Yamamoto T Sato T Hosoi M Yoshioka K Tanaka S Tahara H Nishizawa Y Fujii S 《Diabetes, obesity & metabolism》2003,5(1):51-57
Aim: The objective of this study was to investigate cross-sectionally and longitudinally whether polymorphism of the (A-C)n dinucleotide repeat sequence of the aldose reductase ( AR ) gene may modulate risk for diabetic nephropathy or retinopathy in Japanese patients with type 1 diabetes.
Methods: We obtained DNA samples from 101 patients followed up after the onset of type 1 diabetes and analysed a (A-C)n dinucleotide repeat polymorphic marker in the AR gene by polymerase chain reaction (PCR) method.
Results: Ten alleles ranging from Z−10 (128 bp) to Z+8 (146 bp) in repeat number were identified. In cross-sectional studies, the prevalence of the Z+2 allele was higher than that of any other allele in patients with diabetic nephropathy (37.5% of patients in a microalbuminuria group, and 41.7% of those in a macroalbuminuria group including patients with chronic renal failure and maintenance haemodialysis treatment). Prevalence of the Z+2 allele was not increased in patients with diabetic retinopathy. In longitudinal Kaplan–Meier plots, the cumulative incidence of nephropathy was significantly associated with homozygosity for the Z+2 allele (log rank test, p = 0.031); respective prevalence of nephropathy after diabetes durations of 10 and 15 years was 42.9% and 100% in Z+2 homozygotes ( n = 8), 17.6% and 27.4% in Z+2 heterozygotes ( n = 44), and 6.1% and 17.4% in patients without the Z+2 allele ( n = 49). However, occurrence of retinopathy was not influenced by the Z+2 allele (log rank test, p = 0.926).
Conclusions: Homozygosity for the Z+2 allele was associated with accelerated early progression of diabetic nephropathy in Japanese type 1 diabetic patients. 相似文献
Methods: We obtained DNA samples from 101 patients followed up after the onset of type 1 diabetes and analysed a (A-C)n dinucleotide repeat polymorphic marker in the AR gene by polymerase chain reaction (PCR) method.
Results: Ten alleles ranging from Z−10 (128 bp) to Z+8 (146 bp) in repeat number were identified. In cross-sectional studies, the prevalence of the Z+2 allele was higher than that of any other allele in patients with diabetic nephropathy (37.5% of patients in a microalbuminuria group, and 41.7% of those in a macroalbuminuria group including patients with chronic renal failure and maintenance haemodialysis treatment). Prevalence of the Z+2 allele was not increased in patients with diabetic retinopathy. In longitudinal Kaplan–Meier plots, the cumulative incidence of nephropathy was significantly associated with homozygosity for the Z+2 allele (log rank test, p = 0.031); respective prevalence of nephropathy after diabetes durations of 10 and 15 years was 42.9% and 100% in Z+2 homozygotes ( n = 8), 17.6% and 27.4% in Z+2 heterozygotes ( n = 44), and 6.1% and 17.4% in patients without the Z+2 allele ( n = 49). However, occurrence of retinopathy was not influenced by the Z+2 allele (log rank test, p = 0.926).
Conclusions: Homozygosity for the Z+2 allele was associated with accelerated early progression of diabetic nephropathy in Japanese type 1 diabetic patients. 相似文献
15.
Association of aldose reductase gene Z+2 polymorphism with reduced susceptibility to diabetic nephropathy in Caucasian Type 1 diabetic patients. 总被引:4,自引:0,他引:4
M Lajer L Tarnow J Fleckner B V Hansen D G Edwards H-H Parving E Boel 《Diabetic medicine》2004,21(8):867-873
AIMS: The Z-2 allele of the (AC)n polymorphism in the aldose reductase gene (ALR2) confers increased risk of microvascular diabetic complications, whereas the Z+2 allele has been proposed to be a marker of protection. However data are conflicting. Therefore, we investigated whether this polymorphism is associated with diabetic nephropathy and retinopathy in Type 1 diabetes mellitus in a large case-control study and a family-based analysis. METHODS: A total of 431 Type 1 diabetic patients with diabetic nephropathy and 468 patients with longstanding Type 1 diabetes and persistent normoalbuminuria were genotyped for the case-control study. In addition, 102 case trios and 98 control trios were genotyped for a family-based study. RESULTS: Thirteen different alleles were identified. In the case-control study, the Z+2 allele frequency was significantly higher in the normoalbuminuric diabetic than in patients with diabetic nephropathy (0.17 vs. 0.11, P = 0.008), suggesting a protective function of the Z+2 allele. No significant increase in the frequency of the putative risk allele Z-2 was found in patients with diabetic nephropathy vs. controls (0.39 vs. 0.36). No association with diabetic retinopathy was found. Although the results of the transmission of the Z-2 and Z+2 alleles in the independent family-based study were consistent with the association study, the number of informative families was limited and thus differences were not statistically significant. CONCLUSIONS: The Z+2 allele of the ALR2 promoter polymorphism is associated with a reduced susceptibility to diabetic nephropathy in Danish Type 1 diabetic patients, suggesting a minor role for the polyol pathway in the pathogenesis of diabetic kidney disease. No association of the ALR2 polymorphism with diabetic retinopathy was found. 相似文献
16.
Aldose reductase (AC)n gene polymorphism and susceptibility to diabetic retinopathy in Type 2 diabetes in Caucasians 总被引:3,自引:0,他引:3
Petrovic MG Peterlin B Hawlina M Petrovic D 《Journal of diabetes and its complications》2005,19(2):70-73
Genetic factors are implicated in the development of diabetic retinopathy, and the aldose reductase (AC)n gene is a candidate gene for the development of diabetic retinopathy in patients with Type 2 diabetes. In the association study, a relationship between the aldose reductase (AC)n gene polymorphism and the development of diabetic retinopathy in patients with Type 2 diabetes were studied. We tested the hypothesis whether the Z-2 allele of the aldose reductase gene is a risk factor for the development of diabetic retinopathy in a group of Caucasian participants with Type 2 diabetes. Two hundred and five participants with Type 2 diabetes were enrolled in the study: 124 participants with Type 2 diabetes with diabetic retinopathy were compared with 81 diabetic participants without retinopathy with diabetes duration of more than 10 years. Eight alleles of the aldose reductase (AC)n gene polymorphism were detected: Z+6, Z+4, Z+2, Z, Z-2, Z-4, Z-6, and Z-8. An increased frequency of the Z-2 allele was found in the patients with diabetic retinopathy compared with the patients without diabetic retinopathy (39.1% vs. 26.5%; P value=.009, chi2=6.9). Our results suggest that the Z-2 allele of the aldose reductase gene is a risk factor for the development of diabetic retinopathy in a group of Caucasian participants with Type 2 diabetes. 相似文献
17.
(AC)(n) polymorphism of aldose reductase gene and diabetic microvascular complications in type 2 diabetes mellitus. 总被引:6,自引:0,他引:6
H K Park C W Ahn G T Lee S J Kim Y D Song S K Lim K R Kim K B Huh H C Lee 《Diabetes research and clinical practice》2002,55(2):151-157
Recent studies suggest that the gene encoding aldose reductase, the enzyme that converts glucose to sorbitol, may confer susceptibility to microvascular disease. The aim of this study therefore, was to investigate the relationship between the aldose reductase gene and type 2 diabetic microvascular complications such as diabetic nephropathy and retinopathy. DNA from 127 Korean patients with type 2 diabetes was typed for an (AC)(n) dinucleotide repeat polymorphic marker at the 5'-end of the aldose reductase gene using polymerase chain reaction. No significant difference in the frequency of the putative risk allele Z-2 was found in patients of nephropathy and retinopathy groups compared with the uncomplicated group (32.2, 34.1 vs. 25.1%, respectively, P>0.05). Similarly, no difference was found in the frequency of the putative protective allele Z+2 among any of the study groups. In conclusion, the results of the study in Korean type 2 diabetic patients do not support the hypothesis that polymorphism at the 5' end of the aldose reductase gene contributes to the susceptibility to diabetic microvascular complications. 相似文献
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亚甲基四氢叶酸还原酶基因多态性与糖尿病微血管并发症相关性研究 总被引:3,自引:0,他引:3
目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性与中国人2型糖尿病微血管并发症的关系。方法:运用PCR—RFLP检测263例中国人(206例为2型糖尿病,其中148例合并肾病或视网膜病变,57例为正常对照组)MTHFR基因C677T位碱其突变,比较各组间等位基因频率和基因型频率。结果:(1)同时合并肾病和视网膜病变的2型糖尿病组与无微血管并发症的2型糖尿病组及正常对照组相比,TT基因型频率显著增加,突变等位基因T频率也明显升高。(2)2型糖尿病合并肾病组TT基因型频率及T等位基因频率明显高于不伴有肾病的2型糖尿病组及正常对照组。(3)2型糖尿病合并视网膜病组与无视网膜病的2型糖尿病及正常对照组相比,TT基因型频率及T等位基因频率明显升高。结论:MTHFR基因C677T碱基突变是促进中国人2型糖尿病患者并发微血管并发症的危险因子,突变T等位基因是糖尿病微血管并发症的易感基因。 相似文献
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中国人2型糖尿病微血管并发症与AGE受体基因Gly82Ser多态性相关研究 总被引:1,自引:0,他引:1
目的 探讨 AGE受体 (RAGE)基因 Gly82 Ser多态性与中国人 2型糖尿病微血管并发症间的关系。方法 使用限制性内切酶 Alu I(AG↑ CT)的 PCR- RFL P法 ,检测 10 4例非糖尿病对照者和 15 6例 2型糖尿病伴或不伴肾病、视网膜病变者的 RAGE基因 Gly82 Ser的多态基因型。结果 中国人 RAGE基因 Gly82 Ser多态基因型以 GG型、等位基因以 G型为最多见 ,但频率分布与白种人相比有显著性差异。非 DM对照组与 2型糖尿病伴或不伴有肾病的 4个亚组间、与伴或不伴有视网膜病变的 2个亚组间 ,RAGE基因的 Gly82 Ser多态的基因型 (GG、GS、SS)频率或等位基因 (G、S)频率皆无显著性差异 (Fisher's确切 P值 >0 .0 5 )。结论 RAGE基因的 Gly82 Ser多态引起的 RAGE功能性氨基酸突变与 2型糖尿病微血管并发症的发生及进展无显著性相关 相似文献