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

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ＰＣＲＲＦＬＰ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。     

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

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（ＰＣＲＲＦＬＰ）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ＬＤＬＣ水平，而携带ε２等位基因的个体具有较低的ＴＣ及ＬＤＬＣ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     

2型糖尿病合并冠心病AT1A／C多态性研究

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。     

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

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     

醛糖还原酶基因5‘端（AC）n多态性对2型糖尿病患者红细 …

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     

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

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（ＰＣＲＲＦＬＰ）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＝０００８）。“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。     

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 …

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     

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

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     

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

目的研究大多功能蛋白酶（ＬＭＰ）２基因与１型糖尿病（１ＤＭ）及其发病年龄的关系。方法７１例１ＤＭ患者及８６名健康人参加,根据发病年龄将１ＤＭ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（ＰＣＲＲＦＬＰ）技术进行ＬＭＰ２基因分型。结果ＬＭＰ２Ｒ／Ｒ、ＬＭＰ２Ｒ／Ｈ、ＬＭＰ２Ｈ／Ｈ、ＬＭＰ２Ｒ及ＬＭＰ２Ｈ频率在１ＤＭ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％。ＬＭＰ２Ｒ／Ｈ频率在１ＤＭ组显著高于对照组（Ｐ＜０．０１）,而ＬＭＰ２Ｒ／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１ＤＭ各发病年龄组之间无显著性差异（Ｐ＞０．０５）。结论ＬＭＰ２Ｒ／Ｈ可能为１ＤＭ的易感基因型,ＬＭＰ２Ｒ／Ｈ阳性者患１ＤＭ的危险性增加;ＬＭＰ２Ｒ／Ｒ可能是１ＤＭ的保护基因型,ＬＭＰ２Ｒ／Ｒ阳性者患１ＤＭ的危险性降低;ＬＭＰ２各个基因型及等位基因与１ＤＭ的发病年龄无     

2型糖尿病病因的多因素分析

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     

Association of an (A-C)n dinucleotide repeat polymorphic marker at the 5'-region of the aldose reductase gene with retinopathy but not with nephropathy or neuropathy in Japanese patients with Type 2 diabetes mellitus.

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.     

Association between (AC)n dinucleotide repeat polymorphism at the 5'-end of the aldose reductase gene and diabetic nephropathy: a meta-analysis

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.     

中国人醛糖还原酶基因5'端(AC)n多态性与2型糖尿病肾病相关性的meta分析

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.     

Aldose reductase gene polymorphism is associated with progression of diabetic nephropathy in Japanese patients with type 1 diabetes mellitus

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.     

Association of aldose reductase gene Z+2 polymorphism with reduced susceptibility to diabetic nephropathy in Caucasian Type 1 diabetic patients.

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.     

Aldose reductase (AC)n gene polymorphism and susceptibility to diabetic retinopathy in Type 2 diabetes in Caucasians

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.     

(AC)(n) polymorphism of aldose reductase gene and diabetic microvascular complications in type 2 diabetes mellitus.

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.     

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

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。     

MMP-9基因二核苷酸重复序列多态标志与2型糖尿病视网膜并发症相关

采用基因扫描方法 ,检测 2型糖尿病视网膜并发症患者 (DR )及无该并发症 (DR -)患者基质金属蛋白酶 9(MMP 9)基因二核苷酸串联重复序列多态标记 (AC)n的基因型。与DR -组相比 ,DR 组AC2 1基因型及等位基因频率显著减少 ,提示MMP 9基因的AC2 1等位基因可能与中国人 2型糖尿病视网膜并发症相关     

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

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