肾脏疾病全基因组测序关联研究进展
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摘要
全基因组关联研究(GWAS)是通过比较目标人群和对照人群的全基因组序列,分析这些基因水平上的变异与疾病或性状的关联。作者对近年来肾脏疾病GWAS研究进展,包括慢性肾脏病、糖尿病肾病、IgA肾病及其目前所面临的挑战和机遇作一综述,并就GWAS发现的候选基因做GO分析以寻找可能提示的致病机制。
引文
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[13]KIRYLUK K,LI Y,MOLDOVEANU Z,et al.GWAS for serum galactose-deficient Ig A1 implicates critical genes of the O-glycosylation pathway[J].PLo S Genetics,2017,13(2):e1006609.
[14]GHARAVI A G,KIRYLUK K,CHOI M,et al.Genome-wide association study identifies susceptibility loci for Ig A nephropathy[J].Nature Genetics,2011,43(4):321-327.
[15]FEEHALLY J,FARRALL M,BOLAND A,et al.Genomewide analysis identifies strong association between HLA and Ig A nephropathy[J].J Am Soc Nephrol,2010,21(10):1791-1797.
[16]YU X,LI M,ZHANG H,et al.A genome-wide association study in Han Chinese identifies multiple susceptibility loci for Ig A nephropathy[J].Nature Genetics,2011,44(2):178-182.
[17]ZHU L,ZHAI Y,WANG F,et al.Variants in complement factor H and complement factor H-related protein genes,CFHR3and CFHR1,affect complement activation in Ig A nephropathy[J].J Am Soc Nephrol,2015,26(5):1195-1204.
[18]ZHAI Y,MENG S,ZHU L,et al.Rare variants in the complement factor H-related protein 5 gene contribute to genetic susceptibility to Ig A nephropathy[J].J Am Soc Nephrol,2016,27(9):2894-2905.
[19]KIRYLUK K,LI Y,SCOLARI F,et al.Discovery of new risk loci for Ig A nephropathy implicates genes involved in immunity against intestinal pathogens[J].Nature Genetics,2014,46(11):1187-1196.
[20]GALE D P,MOLYNEUX K,WIMBURY D,et al.Galactosylation of Ig A1 is associated with common variation in C1GALT1[J].J Am Soc Nephrol,2017,28(7):2158-2166.
[21]ZHAI Y,ZHU L,SHI S,et al.Increased APRIL expression induces Ig A1 aberrant glycosylation in Ig A nephropathy[J].Medicine,2016,95(11):e3099.
[2]MAHAJAN A,RODAN A R,LE T H,et al.Trans-ethnic fine mapping highlights kidney-function genes linked to salt sensitivity[J].Am J Hum Genet,2016,99(3):636-646.
[3]GUDBJARTSSON D F,HOLM H,INDRIDASON O S,et al.Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases[J].PLo S Genetics,2010,6(7):e1001039.
[4]KOTTGEN A,GLAZER N L,DEHGHAN A,et al.Multiple loci associated with indices of renal function and chronic kidney disease[J].Nature Genetics,2009,41(6):712-717.
[5]PATTARO C,TTGEN A K,TEUMER A,et al.Genome-wide association and functional follow-up reveals new loci for kidney function[J].PLo S Genetics,2012,8(3):e1002584.
[6]MCMAHON G M,HWANG S,CLISH C B,et al.Urinary metabolites along with common and rare genetic variations are associated with incident chronic kidney disease[J].Kidney International,2017,91(6):1426-1435.
[7]SHARMA D,BHATTACHARYA P,KALIA K,et al.Diabetic nephropathy:new insights into established therapeutic paradigms and novel molecular targets[J].Diabetes Res Clin Pr,2017,128:91-108.
[8]IYENGAR S K,SEDOR J R,FREEDMAN B I,et al.Genomewide association and trans-ethnic meta-analysis for advanced diabetic kidney disease:family investigation of nephropathy and diabetes(FIND)[J].PLo S Genetics,2015,11(8):e1005352.
[9]LEE Y H,SONG G G.Genome-wide pathway analysis for diabetic nephropathy in type 1 diabetes[J].Endocrine Research,2016,41(1):1-7.
[10]PANDURU N M,SANDHOLM N,FORSBLOM C,et al.Kidney injury molecule-1 and the loss of kidney function in diabetic nephropathy:a likely causal link in patients with type 1diabetes[J].Diabetes Care,2015,38(6):1130-1137.
[11]易元杰,徐远久,周金华,等.尿NGAL、KIM-1对晚期肝硬化肝肾综合征患者的预测价值[J].现代医学,2017,45(6):771-776.
[12]LI M,FOO J,WANG J,et al.Identification of new susceptibility loci for Ig A nephropathy in Han Chinese[J].Nature Communications,2015,6:7270.
[13]KIRYLUK K,LI Y,MOLDOVEANU Z,et al.GWAS for serum galactose-deficient Ig A1 implicates critical genes of the O-glycosylation pathway[J].PLo S Genetics,2017,13(2):e1006609.
[14]GHARAVI A G,KIRYLUK K,CHOI M,et al.Genome-wide association study identifies susceptibility loci for Ig A nephropathy[J].Nature Genetics,2011,43(4):321-327.
[15]FEEHALLY J,FARRALL M,BOLAND A,et al.Genomewide analysis identifies strong association between HLA and Ig A nephropathy[J].J Am Soc Nephrol,2010,21(10):1791-1797.
[16]YU X,LI M,ZHANG H,et al.A genome-wide association study in Han Chinese identifies multiple susceptibility loci for Ig A nephropathy[J].Nature Genetics,2011,44(2):178-182.
[17]ZHU L,ZHAI Y,WANG F,et al.Variants in complement factor H and complement factor H-related protein genes,CFHR3and CFHR1,affect complement activation in Ig A nephropathy[J].J Am Soc Nephrol,2015,26(5):1195-1204.
[18]ZHAI Y,MENG S,ZHU L,et al.Rare variants in the complement factor H-related protein 5 gene contribute to genetic susceptibility to Ig A nephropathy[J].J Am Soc Nephrol,2016,27(9):2894-2905.
[19]KIRYLUK K,LI Y,SCOLARI F,et al.Discovery of new risk loci for Ig A nephropathy implicates genes involved in immunity against intestinal pathogens[J].Nature Genetics,2014,46(11):1187-1196.
[20]GALE D P,MOLYNEUX K,WIMBURY D,et al.Galactosylation of Ig A1 is associated with common variation in C1GALT1[J].J Am Soc Nephrol,2017,28(7):2158-2166.
[21]ZHAI Y,ZHU L,SHI S,et al.Increased APRIL expression induces Ig A1 aberrant glycosylation in Ig A nephropathy[J].Medicine,2016,95(11):e3099.