糖尿病肾脏疾病易感基因单核苷酸多态性研究进展
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摘要
DKD是由基因和环境因素共同导致的复杂遗传性疾病,遗传因素起重要作用,易感基因的鉴定有助于解析DKD的发病机制,指导其临床诊断和治疗。随着单核苷酸多态性(SNP)分析技术的发展,已发现许多基因变异与DKD密切相关。本文从SNP与DKD的关系进行阐述。
Diabetic kidney disease(DKD) is a complex genetic disease caused by genes and environmental factors, in which genetic factors play an important part. Identification of its susceptibility genes is useful for elucidating the mechanism of DKD pathogenesis, thus providing clues for clinical diagnosis and therapy. With the development of single nucleotide polymorphism(SNP) analysis technology, many genetic variants have been found to be closely related to DKD. In this review, we will summarize the association between SNP and DKD.
Diabetic kidney disease(DKD) is a complex genetic disease caused by genes and environmental factors, in which genetic factors play an important part. Identification of its susceptibility genes is useful for elucidating the mechanism of DKD pathogenesis, thus providing clues for clinical diagnosis and therapy. With the development of single nucleotide polymorphism(SNP) analysis technology, many genetic variants have been found to be closely related to DKD. In this review, we will summarize the association between SNP and DKD.
引文
[1] Zhang L, Long J, Jiang W, et al. Trends in chronic kidney disease in China. N Engl J Med, 2016, 375:905-906.
[2] Mooyaart AL, Valk EJ, van Es LA, et al. Genetic associations in diabetic nephropathy:A meta-analysis. Diabetologia, 2011,54:544-553.
[3] Nazir N, Siddiqui K, Al-Qasim S, et al. Meta-analysis of diabetic nephropathy associated genetic variants in inflammation andangiogenesis involved in different biochemical pathways. BMC Med Genet, 2014, 15:103.
[4] Wang F, Fang Q, Yu N, et al. Association between genetic polymorphism of the angiotensin-converting enzyme and diabetic nephropathy:A meta-analysis comprising 26,580 subjects. J Renin Angiotensin Aldosterone Syst, 2012, 13:161-174.
[5]贾海燕,文世林.中国汉族2型糖尿病肾病与血管紧张素转换酶基因缺失多态性的系统评价.中国糖尿病杂志,2012,20:414-417.
[6]左彦方,龙爱梅,黄晓青,等.血管紧张素转换酶基因多态性与2型糖尿病肾病相关性的Meta分析.中国循证医学杂志,2012,12:1071-1075.
[7] Ding W, Wang F, Fang Q, et al. Association between two genetic polymorphisms of the renin-angiotensin-aldosterone system and diabetic nephropathy:A meta-analysis. Mol Biol Rep, 2012,39:1293-1303.
[8] Moradi M,Rahimi Z,Amiri S, et al. AT1R A1166C variants in patients with type 2 diabetes mellitus and diabetic nephropathy. J Nephropathol, 2015,4:69-76.
[9] Mtiraoui N, Ezzidi I, Turki A, et al. Renin-angiotensin-aldosterone system genotypes and haplotypes affect the susceptibility to nephropathy in type 2 diabetes patients. J Renin Angiotensin Aldosterone Syst, 2011, 12:572-580.
[10]缪菁,尹雪瑶,杨佳琦,等.血管紧张素原基因-20A/C多态性与2型糖尿病肾病相关性研究.中国糖尿病杂志,2013,21:113-117.
[11]刘丽梅,项坤三,郑泰山.醛糖还原酶基因多态性与糖尿病微血管并发症的相关性研究.中华内分泌代谢杂志,1999,15:10-13.
[12] Cui W,Du B,Cui Y,et al. Is rs759853 polymorphism in promoter of aldose reductase gene a risk factor for diabetic nephropathy?A meta-analysis. Eur J Med Res,2015,20:14.
[13]赵明明,张荣,李灿,等.上海地区汉族人PRKCB1基因rs3760106变异与2型糖尿病终末期肾病发病相关.上海交通大学学报医学版,2014,34:1027-1033.
[14]周维,刘国生,褚志华,等.溶质载体家族2促进葡萄糖转运蛋白成员1(SLC2A1)HaeⅢ基因多态性与糖尿病肾病的相关性研究.中国糖尿病杂志,2017,25:298-302.
[15] Zhang R,Zhuang L,Li M,et al. Arg913Gln of SLC12A3 gene promotes development and progression of end-stage renal disease in Chinese type 2 diabetes mellitus. Mol Cell Biochem,2018,437:203-210.
[16]Li Y,Tang K,Zhang, Z,et al. Genetic diversity of the apolipoprotein E gene and diabetic nephropathy:a meta-analysis. Mol Biol Rep,2011,38:3243-3252.
[17]王袁,吴琪俊,施榕.糖尿病肾病与载脂蛋白E基因多态性相关性的Meta分析.上海交通大学学报(医学版),2011,31:625-631.
[18]陈波,宋滇平,吴于滨,等.中国南方汉族人群ApoC3基因启动子区-482C→T多态性与糖尿病肾病的相关性研究.中国糖尿病杂志,2012,20:263-266.
[19]高芃,刘晓刚.白细胞介素6信号转导通路与糖尿病肾病的关系.医学综述,2018,24:2043-2047.
[20]康乐.白细胞介素-18、白细胞介素-6的基因多态性与2型糖尿病肾病的相关性分析.石家庄:河北医科大学,2015.
[21] Stefanidis I, Kreuer K, Dardiotis E, et al. Association between the interleukin-1βGene(IL1B)C-511T polymorphism and the risk of diabetic nephropathy in type 2 diabetes:A candidate-gene association study. DNA Cell Biol. 2014,33:463-468.
[22] Mao S, Huang S. Monocyte chemoattractant protein-1-2518G/A gene polymorphism and the risk of nephropathy in type 2 diabetes mellitus among Asians:A meta-analysis. Ren Fail, 2014,36:139-144.
[23] Dellamea BS, Pinto LC, Leitao CB, et al. Endothelial nitric oxide synthase gene polymorphisms and risk of diabetic nephropathy:A systematic review and meta-analysis. BMC Med Genet,2014,15.
[24] Santos KG, Crispim D, Canani LH, et al. Association of eNOS gene polymorphisms with renal disease in Caucasians with type 2diabetes. Diabetes Res Clin Pract, 2011,91:353-362.
[25] Zhou TB, Jiang ZP, Qin YH,et al. Association of transforming growth factor-β1 T869C gene polymorphism with diabetic nephropathy risk. Nephrology(Carlton), 2014,19:107-115.
[26] Yang S, Zhang J, Feng C,et al. MTHFR 677T variant contributes to diabetic nephropathy risk in Caucasian individuals with type 2 diabetes:A meta-analysis. Metabolism, 2013, 62:586-594.
[27] Chang WW, Zhang L, Yao YS,et al. Methylenetetrahydrofolate reductase(MTHFR)C677T polymorphism and susceptibility to diabetic nephropathy in Chinese type 2 diabetic patients:A meta-analysis. Ren Fail,2013,35:1038-1043.
[28] Vedralova M, Kotrbova-Kozak A, Zeleznikova V,et al. Polymorphisms in the vitamin d receptor gene and parathyroid hormone gene in the development and progression of diabetes mellitus and its chronic complications, diabetic nephropathy and non-diabetic renal disease. Kidney Blood Press Res, 2012, 36:1-9.
[29] Grzegorzewska AE, Ostromecki G, Zielinska P,et al. T-cell cytokine gene polymorphisms and vitamin D pathway gene polymor phisms in end-stage renal disease due to type 2 diabetes mellitus nephropathy:Comparisons with health status and other main causes of end-stage renal disease. J Diabetes Res,2014:120317.
[30] Zhang H,Wang J,Yi B,et al. BsmI polymorphisms in vitamin D receptor gene are associated with diabetic nephropathy in type2 diabetes in the Han Chinese population. Gene,2012,495:183-188.
[31] Zhang H,Zhu S,Chen J,et al. Peroxisome proliferator-activated receptor y polymorphism Pro 12Ala is associated with nephropathy in type 2 diabetes:Evidence from meta-analysis of 18 studies. Diabetes Care, 2012,35:1388-1393.
[32] Liu G, Zhou TB, Jiang Z,et al. Relationship between PPARy Pro12Ala gene polymorphism and type 2 diabetic nephropathy risk in Asian population:Results from a meta-analysis. J Recept Signal Transduct Res, 2014,34:131-136.
[2] Mooyaart AL, Valk EJ, van Es LA, et al. Genetic associations in diabetic nephropathy:A meta-analysis. Diabetologia, 2011,54:544-553.
[3] Nazir N, Siddiqui K, Al-Qasim S, et al. Meta-analysis of diabetic nephropathy associated genetic variants in inflammation andangiogenesis involved in different biochemical pathways. BMC Med Genet, 2014, 15:103.
[4] Wang F, Fang Q, Yu N, et al. Association between genetic polymorphism of the angiotensin-converting enzyme and diabetic nephropathy:A meta-analysis comprising 26,580 subjects. J Renin Angiotensin Aldosterone Syst, 2012, 13:161-174.
[5]贾海燕,文世林.中国汉族2型糖尿病肾病与血管紧张素转换酶基因缺失多态性的系统评价.中国糖尿病杂志,2012,20:414-417.
[6]左彦方,龙爱梅,黄晓青,等.血管紧张素转换酶基因多态性与2型糖尿病肾病相关性的Meta分析.中国循证医学杂志,2012,12:1071-1075.
[7] Ding W, Wang F, Fang Q, et al. Association between two genetic polymorphisms of the renin-angiotensin-aldosterone system and diabetic nephropathy:A meta-analysis. Mol Biol Rep, 2012,39:1293-1303.
[8] Moradi M,Rahimi Z,Amiri S, et al. AT1R A1166C variants in patients with type 2 diabetes mellitus and diabetic nephropathy. J Nephropathol, 2015,4:69-76.
[9] Mtiraoui N, Ezzidi I, Turki A, et al. Renin-angiotensin-aldosterone system genotypes and haplotypes affect the susceptibility to nephropathy in type 2 diabetes patients. J Renin Angiotensin Aldosterone Syst, 2011, 12:572-580.
[10]缪菁,尹雪瑶,杨佳琦,等.血管紧张素原基因-20A/C多态性与2型糖尿病肾病相关性研究.中国糖尿病杂志,2013,21:113-117.
[11]刘丽梅,项坤三,郑泰山.醛糖还原酶基因多态性与糖尿病微血管并发症的相关性研究.中华内分泌代谢杂志,1999,15:10-13.
[12] Cui W,Du B,Cui Y,et al. Is rs759853 polymorphism in promoter of aldose reductase gene a risk factor for diabetic nephropathy?A meta-analysis. Eur J Med Res,2015,20:14.
[13]赵明明,张荣,李灿,等.上海地区汉族人PRKCB1基因rs3760106变异与2型糖尿病终末期肾病发病相关.上海交通大学学报医学版,2014,34:1027-1033.
[14]周维,刘国生,褚志华,等.溶质载体家族2促进葡萄糖转运蛋白成员1(SLC2A1)HaeⅢ基因多态性与糖尿病肾病的相关性研究.中国糖尿病杂志,2017,25:298-302.
[15] Zhang R,Zhuang L,Li M,et al. Arg913Gln of SLC12A3 gene promotes development and progression of end-stage renal disease in Chinese type 2 diabetes mellitus. Mol Cell Biochem,2018,437:203-210.
[16]Li Y,Tang K,Zhang, Z,et al. Genetic diversity of the apolipoprotein E gene and diabetic nephropathy:a meta-analysis. Mol Biol Rep,2011,38:3243-3252.
[17]王袁,吴琪俊,施榕.糖尿病肾病与载脂蛋白E基因多态性相关性的Meta分析.上海交通大学学报(医学版),2011,31:625-631.
[18]陈波,宋滇平,吴于滨,等.中国南方汉族人群ApoC3基因启动子区-482C→T多态性与糖尿病肾病的相关性研究.中国糖尿病杂志,2012,20:263-266.
[19]高芃,刘晓刚.白细胞介素6信号转导通路与糖尿病肾病的关系.医学综述,2018,24:2043-2047.
[20]康乐.白细胞介素-18、白细胞介素-6的基因多态性与2型糖尿病肾病的相关性分析.石家庄:河北医科大学,2015.
[21] Stefanidis I, Kreuer K, Dardiotis E, et al. Association between the interleukin-1βGene(IL1B)C-511T polymorphism and the risk of diabetic nephropathy in type 2 diabetes:A candidate-gene association study. DNA Cell Biol. 2014,33:463-468.
[22] Mao S, Huang S. Monocyte chemoattractant protein-1-2518G/A gene polymorphism and the risk of nephropathy in type 2 diabetes mellitus among Asians:A meta-analysis. Ren Fail, 2014,36:139-144.
[23] Dellamea BS, Pinto LC, Leitao CB, et al. Endothelial nitric oxide synthase gene polymorphisms and risk of diabetic nephropathy:A systematic review and meta-analysis. BMC Med Genet,2014,15.
[24] Santos KG, Crispim D, Canani LH, et al. Association of eNOS gene polymorphisms with renal disease in Caucasians with type 2diabetes. Diabetes Res Clin Pract, 2011,91:353-362.
[25] Zhou TB, Jiang ZP, Qin YH,et al. Association of transforming growth factor-β1 T869C gene polymorphism with diabetic nephropathy risk. Nephrology(Carlton), 2014,19:107-115.
[26] Yang S, Zhang J, Feng C,et al. MTHFR 677T variant contributes to diabetic nephropathy risk in Caucasian individuals with type 2 diabetes:A meta-analysis. Metabolism, 2013, 62:586-594.
[27] Chang WW, Zhang L, Yao YS,et al. Methylenetetrahydrofolate reductase(MTHFR)C677T polymorphism and susceptibility to diabetic nephropathy in Chinese type 2 diabetic patients:A meta-analysis. Ren Fail,2013,35:1038-1043.
[28] Vedralova M, Kotrbova-Kozak A, Zeleznikova V,et al. Polymorphisms in the vitamin d receptor gene and parathyroid hormone gene in the development and progression of diabetes mellitus and its chronic complications, diabetic nephropathy and non-diabetic renal disease. Kidney Blood Press Res, 2012, 36:1-9.
[29] Grzegorzewska AE, Ostromecki G, Zielinska P,et al. T-cell cytokine gene polymorphisms and vitamin D pathway gene polymor phisms in end-stage renal disease due to type 2 diabetes mellitus nephropathy:Comparisons with health status and other main causes of end-stage renal disease. J Diabetes Res,2014:120317.
[30] Zhang H,Wang J,Yi B,et al. BsmI polymorphisms in vitamin D receptor gene are associated with diabetic nephropathy in type2 diabetes in the Han Chinese population. Gene,2012,495:183-188.
[31] Zhang H,Zhu S,Chen J,et al. Peroxisome proliferator-activated receptor y polymorphism Pro 12Ala is associated with nephropathy in type 2 diabetes:Evidence from meta-analysis of 18 studies. Diabetes Care, 2012,35:1388-1393.
[32] Liu G, Zhou TB, Jiang Z,et al. Relationship between PPARy Pro12Ala gene polymorphism and type 2 diabetic nephropathy risk in Asian population:Results from a meta-analysis. J Recept Signal Transduct Res, 2014,34:131-136.