金属硫蛋白基因多态性与2型糖尿病及其并发症的相关性研究

发布时间：2018-06-03 10:22

本文选题：MT1A基因 + MT2A基因　；参考：《昆明医科大学》2017年硕士论文

【摘要】：[目的]探讨MT1A基因rs8052394多态性及MT2A基因rs28366003多态性与昆明地区汉族2型糖尿病(Type 2 diabetes mellitus,T2DM)的相关性。[方法]收集257例T2DM患者和108例健康对照(NC)者的外周静脉血,采用Taqman实时荧光定量PCR技术对两组MT1A基因rs8052394多态性及MT2A基因rs28366003多态性进行检测,并比较分析各组基因型、等位基因频率、风险因素及相关临床和生化指标。[结果](1) 一般资料及生化资料在T2DM组与健康对照组间的比较:T2DM组Cr、UA、TG、FBG、BMI、HbA1C 均高于 NC 组(p0.05),而 HDL-C 低于 NC 组(p0.05),差异有统计学意义;其余指标两组间差异无统计学意义(p0. 05)。(2)MT1A基因rs8052394多态性在T2DM与健康对照组间的比较:各组样本基因型频率均符合Hardy-Weinberg遗传平衡定律(P0. 05),其中A等位基因频率0. 71;G等位基因频率0. 29。T2DM组的A/A基因型频率高于NC组(X2=20. 519,p0. 001 );T2DM组A等位基因频率高于NC组(X2=29.213,p0.001)。(3) MT2A基因rs28366003多态性在T2DM与健康对照组间的比较:各组样本基因型频率均符合Hardy-Weinberg遗传平衡定律(P0. 05),其中A等位基因频率0.76; G等位基因频率0. 24。T2DM组的G/G基因型频率高于NC组(X2=7.167, p=0.007), A/A基因型与A/G基因型频率在T2DM与健康对照组之间无统计学差异(X2=4. 938,p=0. 026; X2=2. 877, p=0. 090); T2DM组G等位基因频率高于NC组,统计学有差异(X2=1 1. 073, p = 0. 001 )。(4)MT1A 基因 rs8052394 及 MT2A 基因 rs28366003多态性在男性及女性间的比较均无统计学差异(P0. 05)。(5)二分类Logistic回归分析提示:MT2A基因rs28366003多态性可能与2型糖尿病的发生无关,而高尿酸(UA)及MT1Ars8052394 A/A基因型可能是2型糖尿病发生的危险因素,HDL-C可能是2型糖尿病发生的保护因素。[结论]在昆明地区汉族人群中MT2A基因rs28366003多态性可能与2型糖尿病的发生无关,而MT1A rs8052394 A/A基因型及高尿酸(UA)可能是2型糖尿病发生的危险因素,高密度脂蛋白胆固醇(HDL-C)可能是2型糖尿病发生的保护因素。[目的]探讨MT1A基因及MT2A基因与昆明地区汉族人群糖尿病慢性肾脏疾病(diabetic kidney disease, DKD)的相关性。[方法]应用Taqman探针技术对研究对象的MT1A基因(rs8052394)及MT2A基因(rs28366003)多态性进行检测,并比较分析DKD的T2DM组(DKD组)(89例),无DKD的T2DM组(DKD0组)(168例)及健康对照组(NC组)(108例)各组间基因型和等位基因频率以及相关临床和生化指标的相关关系。[结果](1) 一般资料及生化资料在DKD0组、DKD组与NC组的比较:DKD组Cr、UA、FBG、HbA1C 均高于 NC 组及 DKD0组;DKD 组及 DKD。组 TG、BMI 均高于 NC组,HDL-C均低于NC组;DKD。组Cr、UA、FBG、HbA1C均高于NC组,差异有统计学意义(P0.05),其余指标两组间差异无统计学意义(p0.05)。(2) MT1A基因rs8052394多态性在DKD0组、DKD组与健康对照组间的比较:各组样本基因型频率均符合Hardy-Weinberg遗传平衡定律(P0.05) 其中A等位基因频率0. 71;G等位基因频率0.29。各组间基因型频率及等位基因频率均无统计学差异(p0.05)。(3)MT2A基因rs28366003多态性在DKD0组、DKD组与健康对照组间的比较:各组样本基因型频率均符合Hardy-Weinberg遗传平衡定律(P0.05),其中A等位基因频率0.76; G等位基因频率0.24。DKD组G/G基因型频率高于NC 组及 DKD0组(X2=17. 468,p0. 001; X2=10. 286, p=0. 001)。DKD 组 MT2A 基因rs28366003位点G等位基因频率高于NC组及DKD0组,差异有统计学意义(X2=12. 637, p0. 001)。(4)二分类 Logistic 回归分析提示:MT1A 基因rs8052394多态性可能与DKD的发生无关,而高TG、高HbA1C及MT2A基因rs28366003 G/G基因型为DKD发生的独立危险因素。[结论]在昆明地区汉族人群中MT1A基因rs8052394多态性可能与DKD的发生无关,而高TG、高HbA1C及MT2A基因rs28366003 G/G基因型可能为DKD发生的危险因素。[目的]探讨MT1A基因及MT2A基因与昆明地区汉族2型糖尿病合并外周动脉粥样硬化(atherosclerosis,AS)的相关性。[方法]应用Taqman探针技术对研究对象的MT1A基因(rs8052394)及MT2A基因(rs28366003)多态性进行检测,并比较分析的2型糖尿病合并外周动脉粥样硬化组(AS) (87例),单纯T2DM组(T2DM) (170例)及健康对照组(NC) (108例)各组间基因型和等位基因频率以及相关临床和生化指标的相关关系。[结果](1)—般资料及生化资料在T2DM组、AS组与NC组间的比较:AS组及 T2DM 组 Cr、UA、TG、FBG、BMI、HbA1C 均高于 NC 组,HDL-C 低于 NC 组,差异有统计学意义(P0.05);其余各组间两两比较差异无统计学意义(P0.05)。(2)MT1A基因rs8052394多态性在T2DM组、AS组与NC的比较:各组样本基因型频率均符合Hardy-Weinberg遗传平衡定律(P0.05),其中A等位基因频率0. 71; G等位基因频率0.29。AS组及T2DM组MT1A基因rs8052394位点A/A基因型频率高于 NC 组(X2=18.942, p0.001; X2=28.355, p0.001) ; AS 组及T2DM组间各基因型频率均无统计学差异(X2=4.388, p=0. 111)。AS组及T2DM组MT1A基因rs8052394位点A等位基因频率高于NC组(X2=17. 991, p0. 001;X2=27.823, p0.001) ; AS组及T2DM组间各等位基因频率均无统计学差异(X2=3. 876, p=0. 049 )。( 3 ) MT2A 基因 rs28366003 多态性在 T2DM 组、AS 组与NC组间的比较:各组样本基因型频率均符合Hardy-Weinberg遗传平衡定律(P0.05),其中A等位基因频率0. 76; G等位基因频率0. 24。T2DM组MT2A基因rs28366003位点G/G基因型高于NC组(X2=16.601,p0.001);其余各组间基因型频率均无统计学差异(X2=1.293, p=0.524; X2=0, p=1)。AS组及NC组 A 等位基因频率高于 T2DM 组(X2=17. 266, p0.001,X2=9. 082,p=0.003)。(4)二分类Logistic回归分析提示:MT2A基因rs28366003多态性可能与2型糖尿病合并外周动脉粥样硬化的发生无关,HDL-C(OR值-1. 43, 95%CI: 0. 10-0. 59)可能为2型糖尿病合并外周动脉粥样硬化发生的保护性因素,MT1A基因rs8052394 A/A基因型可能为2型糖尿病合并外周动脉粥样硬化发生的独立危险因素。[结论]在昆明地区汉族人群中MT2A基因rs28366003多态性可能与2型糖尿病合并外周动脉粥样硬化的发生无关,而MT1A基因rs8052394 A/A基因型可能为2型糖尿病合并外周动脉粥样硬化发生的独立危险因素。
[Abstract]:[Objective] to investigate the association of MT1A gene rs8052394 polymorphism and MT2A gene rs28366003 polymorphism with type 2 diabetes mellitus (Type 2 diabetes mellitus, T2DM) in Kunming Han nationality. [Methods] the peripheral venous blood of 257 cases of T2DM and 108 healthy controls (NC) were collected, and two groups of genes were selected by Taqman real-time fluorescent quantitative PCR. State and MT2A gene rs28366003 polymorphism were detected, and the genotype, allele frequency, risk factors and related clinical and biochemical indexes were compared and analyzed. [results] the general data and biochemical data were compared between the T2DM group and the healthy control group: Cr, UA, TG, FBG, BMI, HbA1C were higher than the NC group (P0.05) in the T2DM group. Group (P0.05), the difference was statistically significant, the difference between the two groups was not statistically significant (p0. 05). (2) the rs8052394 polymorphism of MT1A gene was compared between the T2DM and the healthy control groups: the genotype frequencies of each group were in accordance with the Hardy-Weinberg genetic balance law (P0. 05), including the A allele frequency 0.71, and the G allele frequency 0. 29.T2DM group. The frequency of A/A genotype was higher than that in NC group (X2=20. 519, p0. 001), and the frequency of A allele in T2DM group was higher than that in NC group (X2=29.213, p0.001). (3) rs28366003 polymorphism of MT2A gene was compared between T2DM and healthy controls: the genotype frequencies of each group were in conformity with the law of equilibrium (05), among which the allele frequency was 0.76; The frequency of G/G genotypes in group 0. 24.T2DM was higher than that in group NC (X2=7.167, p=0.007), and there was no statistical difference between A/A genotype and A/G genotype frequency between T2DM and healthy controls (X2=4. 938, p=0. 026, X2=2. 877, p=0. 090). There was no significant difference in the rs28366003 polymorphism of s8052394 and MT2A gene between men and women (P0. 05). (5) two classification Logistic regression analysis suggested that the rs28366003 polymorphism of the MT2A gene may not be related to the occurrence of type 2 diabetes, and the high uric acid (UA) and MT1Ars8052394 A/A genotypes may be a risk factor for the occurrence of type 2 diabetes. HDL-C may be a protective factor for the occurrence of type 2 diabetes. [Conclusion] the rs28366003 polymorphism of MT2A gene in the Han population in Kunming region may not be related to the occurrence of type 2 diabetes, while the MT1A rs8052394 A/A genotype and high uric acid (UA) may be a risk factor for type 2 diabetes, and high density lipoprotein cholesterol (HDL-C) may be type 2 diabetes mellitus [Objective] to investigate the correlation between MT1A gene and MT2A gene and diabetic kidney disease (DKD) in the Han population of Kunming. [Methods] the Taqman probe technique was used to detect the polymorphism of MT1A gene (rs8052394) and MT2A gene (rs28366003) of the subjects and to compare and analyze the DKD. 2DM group (group DKD) (group DKD), no DKD T2DM group (group DKD0) (group DKD0) and healthy control group (group NC) (108 cases) the correlation of genotype and allele frequency and related clinical and biochemical indexes. [results] general data and biochemical data in group DKD0, DKD group and NC group: DKD group Cr, UA, etc. DKD group and DKD. group TG, BMI were higher than group NC, HDL-C was lower than group NC; DKD. group Cr, UA, FBG, HbA1C were higher than those in the group, the difference was statistically significant. (2) the difference between the two groups was not statistically significant. Hardy-Weinberg genetic equilibrium law (P0.05) in which the A allele frequency was 0.71; the frequency of G allele frequencies and allele frequencies were not statistically different (P0.05). (3) the MT2A gene rs28366003 polymorphism was compared between the DKD0 group, the DKD group and the healthy control group: the genotype frequencies of each group were all consistent with the Hardy-Weinb. ERG genetic balance (P0.05), A allele frequency 0.76, G allele frequency 0.24.DKD group G/G genotype frequency is higher than the NC group and DKD0 group (X2=17. 468, p0. 001; X2=10. 286, p=0. 001) allele frequencies are higher than that of the group and the group, the difference is statistically significant (4). Two Logistic regression analysis suggests that the rs8052394 polymorphism of the MT1A gene may not be related to the occurrence of DKD, while high TG, high HbA1C and MT2A gene rs28366003 G/G genotype are independent risk factors for DKD. [Conclusion] the MT1A gene rs8052394 polymorphism in the Han population in Kunming region can be independent of the occurrence of DKD. The A gene rs28366003 G/G genotype may be a risk factor for the occurrence of DKD. [Objective] to investigate the correlation between the MT1A gene and the MT2A gene and the peripheral atherosclerosis (atherosclerosis, AS) associated with type 2 diabetes in the Han nationality of Kunming. [Methods] the MT1A gene (rs8052394) and MT2A genes of the subjects were applied by the Taqman probe technique. A comparative analysis of type 2 diabetes with peripheral atherosclerosis (AS) (87 cases), simple T2DM group (T2DM) (170 cases) and healthy control group (NC) (108 cases), the correlation of genotype and allele frequency and related clinical and biochemical indexes. [results] (1) - like data and biochemical data in group T2DM and group AS Compared with group NC, Cr, UA, TG, FBG, BMI, HbA1C were higher in group AS and T2DM than in NC group, and HDL-C was lower than that in NC group. The difference between the other groups was not statistically significant. (2) the comparison between the 22 groups was compared with those in the other groups. ERG genetic equilibrium law (P0.05), A allele frequency 0.71, G allele frequency 0.29.AS group and T2DM group MT1A gene rs8052394 site A/A genotype frequency higher than NC group (X2=18.942, p0.001; The allele frequency of rs8052394 site A was higher than that of NC group (X2=17. 991, p0. 001; X2=27.823, p0.001), and there was no statistical difference between the AS group and the T2DM group (X2=3. 876, p=0. 049). (3) the polymorphism of the MT2A gene was compared with that of the group. RG genetic equilibrium law (P0.05), A allele frequency 0.76, G allele frequency 0. 24.T2DM group MT2A gene rs28366003 loci G/G genotype is higher than NC group (X2=16.601, p0.001), and the other groups have no statistical difference in genotype frequencies. 266, p0.001, X2=9. 082, p=0.003). (4) two classified Logistic regression analysis suggested that the rs28366003 polymorphism of MT2A gene may not be related to the occurrence of peripheral atherosclerosis in type 2 diabetes mellitus, HDL-C (OR value 43, 95%CI: 0. 10-0. 59) may be a protective factor for the occurrence of peripheral atherosclerosis in type 2 diabetes mellitus, MT1A gene The 94 A/A genotype may be an independent risk factor for the occurrence of peripheral atherosclerosis in type 2 diabetes. [Conclusion] the rs28366003 polymorphism of the MT2A gene in the Han population in Kunming region may not be related to the occurrence of peripheral atherosclerosis in type 2 diabetes mellitus, and the MT1A gene rs8052394 A/A genotype may be type 2 diabetes combined with peripheral blood. An independent risk factor for atherosclerosis.
【学位授予单位】：昆明医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R587.2

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