New loci associated with kidney function and chronic kidney disease

被引：649

作者：

Koettgen, Anna ^{[2
,3
]}

Pattaro, Cristian ^{[4
,5
]}

Boeger, Carsten A. ^{[6
]}

Fuchsberger, Christian ^{[4
,5
]}

Olden, Matthias ^{[6
,7
]}

Glazer, Nicole L.

Parsa, Afshin ^{[8
]}

Gao, Xiaoyi ^{[9
]}

Yang, Qiong ^{[10
]}

Smith, Albert V. ^{[11
,12
]}

O'Connell, Jeffrey R. ^{[8
]}

Li, Man ^{[2
]}

Schmidt, Helena ^{[13
,14
]}

Tanaka, Toshiko ^{[15
,16
]}

Isaacs, Aaron ^{[17
]}

Ketkar, Shamika ^{[9
]}

Hwang, Shih-Jen ^{[1
,18
]}

Johnson, Andrew D. ^{[1
,18
]}

Dehghan, Abbas ^{[17
,19
]}

Teumer, Alexander ^{[20
]}

Pare, Guillaume ^{[21
]}

Atkinson, Elizabeth J. ^{[22
]}

Zeller, Tanja ^{[23
]}

Lohman, Kurt ^{[24
]}

Cornelis, Marilyn C. ^{[25
]}

Probst-Hensch, Nicole M. ^{[26
,27
]}

Kronenberg, Florian ^{[28
]}

Toenjes, Anke ^{[29
]}

Hayward, Caroline ^{[30
]}

Aspelund, Thor ^{[11
,12
]}

Eiriksdottir, Gudny ^{[11
]}

Launer, Lenore J. ^{[31
]}

Harris, Tamara B. ^{[31
]}

Rampersaud, Evadnie ^{[32
]}

Mitchell, Braxton D. ^{[8
]}

Arking, Dan E. ^{[33
]}

Boerwinkle, Eric ^{[34
]}

Struchalin, Maksim ^{[35
]}

Cavalieri, Margherita ^{[36
]}

Singleton, Andrew ^{[37
]}

Giallauria, Francesco ^{[38
]}

Metter, Jeffrey ^{[38
]}

de Boer, Ian H. ^{[39
,40
]}

Haritunians, Talin ^{[41
]}

Lumley, Thomas ^{[42
]}

Siscovick, David ^{[43
]}

Psaty, Bruce M. ^{[43
,44
,45
,46
]}

Zillikens, M. Carola ^{[19
,47
]}

Oostra, Ben A. ^{[17
]}

Feitosa, Mary ^{[9
]}

机构：

[1] NHLBI, Framingham Heart Study, Framingham, MA USA

[2] Johns Hopkins Univ, Dept Epidemiol, Baltimore, MD USA

[3] Univ Hosp Freiburg, Div Renal, Freiburg, Germany

[4] European Acad Bozen Bolzano EURAC, Inst Med Genet, Bolzano, Italy

[5] Univ Lubeck, Affiliated Inst, Lubeck, Germany

[6] Univ Med Ctr Regensburg, Dept Internal Med 2, Regensburg, Germany

[7] Univ Med Ctr Regensburg, Dept Epidemiol & Prevent Med, Regensburg, Germany

[8] Univ Maryland, Sch Med, Baltimore, MD 21201 USA

[9] Washington Univ, Sch Med, Div Stat Genom, St Louis, MO USA

[10] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA

[11] Iceland Heart Assoc, Kopavogur, Iceland

[12] Univ Iceland, Reykjavik, Iceland

[13] Med Univ Graz, Inst Mol Biol & Biochem, Austrian Stroke Prevent Study, Dept Neurogeriatr, Graz, Austria

[14] Med Univ Graz, Univ Clin Neurol, Graz, Austria

[15] NIA, Clin Res Branch, Baltimore, MD 21224 USA

[16] Medstar Res Inst, Baltimore, MD USA

[17] Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands

[18] Ctr Populat Studies, Framingham, MA USA

[19] NCHA, NGI, Leiden, Netherlands

[20] Ernst Moritz Arndt Univ Greifswald, Interfac Inst Genet & Funct Genom, Greifswald, Germany

[21] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada

[22] Mayo Clin, Div Biomed Stat & Informat, Rochester, MN USA

[23] Univ Med Ctr Mainz, Dept Med 2, Mainz, Germany

[24] Wake Forest Univ, Div Publ Hlth Sci, Dept Biostat Sci, Winston Salem, NC 27109 USA

[25] Harvard Univ, Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA

[26] Swiss Trop & Publ Hlth Inst, Basel, Switzerland

[27] Univ Basel, Basel, Switzerland

[28] Innsbruck Med Univ, Div Genet Epidemiol, Innsbruck, Austria

[29] Univ Leipzig, Dept Med, Leipzig, Germany

[30] Western Gen Hosp, Inst Genet & Mol Med, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

[31] NIA, Lab Epidemiol Demog & Biometry, Bethesda, MD 20892 USA

[32] Miami Inst Human Genom, Miami, FL USA

[33] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA

[34] Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX USA

[35] Dept Forens Mol Biol, Dept Epidemiol & Biostat, Rotterdam, Netherlands

[36] Med Univ Graz, Univ Clin Neurol, Austrian Stroke Prevent Study, Dept Neurogeriatr, Graz, Austria

[37] NIA, Lab Neurogenet, Bethesda, MD 20892 USA

[38] NIA, Clin Res Branch, Baltimore, MD 21224 USA

[39] Univ Washington, Kidney Res Inst, Seattle, WA 98195 USA

[40] Univ Washington, Div Nephrol, Seattle, WA 98195 USA

[41] Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA

[42] Univ Washington, Dept Biostat, Seattle, WA 98195 USA

[43] Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA

[44] Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA USA

[45] Grp Hlth Res Inst, Seattle, WA USA

[46] Univ Washington, Dept Hlth Serv, Seattle, WA 98195 USA

[47] Erasmus Univ, Dept Internal Med, Rotterdam, Netherlands

[48] Mayo Clin, Div Nephrol & Hypertens, Dept Internal Med, Rochester, MN USA

[49] Med Univ Lubeck, Lubeck Univ Hosp Schleswig Holstein, Inst Med Biometry & Stat, D-23538 Lubeck, Germany

[50] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Epidemiol, Pittsburgh, PA USA

来源：

NATURE GENETICS | 2010年 / 42卷 / 05期

基金：

奥地利科学基金会; 英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; SERUM CREATININE; PROTEIN; GENE; MUTATIONS; VARIANTS; POPULATION; CANDIDATE; HOMOLOG; MEGALIN;

D O I：

10.1038/ng.568

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creat-inine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea < 60 ml/min/ 1.73 m(2); n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide-significant loci (P < 5 x 10(-8)) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or near LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (CPS1, SLC22A2, TMEM60, WDR37, SLC6A13, WDR72 and BCAS3). These results further our understanding of the biologic mechanisms of kidney function by identifying loci that potentially influence nephrogenesis, podocyte function, angiogenesis, solute transport and metabolic functions of the kidney.

引用

页码：376 / U34

页数：11

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