Genetic loci influencing kidney function and chronic kidney disease

被引：226

作者：

Chambers, John C. ^{[1
,2
]}

Zhang, Weihua ^{[1
,2
]}

Lord, Graham M. ^{[3
,4
,5
]}

van der Harst, Pim

Lawlor, Debbie A. ^{[7
]}

Sehmi, Joban S. ^{[2
,6
]}

Gale, Daniel P. ^{[8
]}

Wass, Mark N. ^{[9
]}

Ahmadi, Kourosh R. ^{[10
]}

Bakker, Stephan J. L.

Beckmann, Jacqui ^{[11
]}

Bilo, Henk J. G.

Bochud, Murielle ^{[12
]}

Brown, Morris J. ^{[13
]}

Caulfield, Mark J. ^{[14
]}

Connell, John M. C. ^{[15
]}

Cook, H. Terence ^{[16
]}

Cotlarciuc, Ioana ^{[10
]}

Smith, George Davey ^{[7
]}

de Silva, Ranil ^{[2
,6
]}

Deng, Guohong ^{[17
]}

Devuyst, Olivier ^{[18
]}

Dikkeschei, Lambert D. ^{[19
]}

Dimkovic, Nada ^{[20
]}

Dockrell, Mark ^{[21
]}

Dominiczak, Anna ^{[15
]}

Ebrahim, Shah ^{[23
]}

Eggermann, Thomas ^{[22
]}

Farrall, Martin ^{[24
]}

Ferrucci, Luigi ^{[25
]}

Floege, Jurgen ^{[26
]}

Forouhi, Nita G. ^{[27
]}

Gansevoort, Ron T. ^{[28
]}

Han, Xijin ^{[29
]}

Hedblad, Bo ^{[30
]}

van der Heide, Jaap J. Homan ^{[31
]}

Hepkema, Bouke G. ^{[32
]}

Hernandez-Fuentes, Maria ^{[3
,4
,5
]}

Hypponen, Elina ^{[33
]}

Johnson, Toby ^{[34
,35
]}

de Jong, Paul E. ^{[36
]}

Kleefstra, Nanne ^{[36
]}

Lagou, Vasiliki ^{[37
]}

Lapsley, Marta ^{[21
]}

Li, Yun ^{[29
]}

Loos, Ruth J. F. ^{[27
]}

Luan, Jian'an ^{[27
]}

Luttropp, Karin ^{[38
]}

Marechal, Celine ^{[18
]}

Melander, Olle ^{[30
]}

机构：

[1] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, Dept Epidemiol & Biostat, London, England

[2] Ealing Hosp Natl Hlth Serv NHS Trust, Middlesex, England

[3] Kings Coll London, Dept Nephrol & Transplantat, London, England

[4] Kings Coll London, MRC, London, England

[5] Guys & St Thomas NHS Fdn Trust, Natl Inst Hlth Res, Comprehens Biomed Res Ctr, London, England

[6] Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, London, England

[7] Univ Bristol, MRC, Ctr Causal Anal Translat Epidemiol, Bristol, Avon, England

[8] UCL, Div Med, London, England

[9] Univ London Imperial Coll Sci Technol & Med, Struct Bioinformat Grp, London, England

[10] Kings Coll London, Twin Res & Genet Epidemiol Dept, London WC2R 2LS, England

[11] Univ Lausanne, Dept Med Genet, Lausanne, Switzerland

[12] CHU Vaudois, Univ Inst Social & Prevent Med, CH-1011 Lausanne, Switzerland

[13] Univ Cambridge, Addenbrookes Hosp, Clin Pharmacol Unit, Cambridge CB2 2QQ, England

[14] Barts & London Queen Marys Sch Med & Dent, William Harvey Res Inst, Clin Pharmacol & Genome Ctr, London, England

[15] Univ Glasgow, Glasgow Cardiovasc Res Ctr, Glasgow, Lanark, Scotland

[16] Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp, Dept Histopathol, London, England

[17] Univ London Imperial Coll Sci Technol & Med, Dept Gastroenterol & Hepatol, London, England

[18] Catholic Univ Louvain, Sch Med, Div Nephrol, B-1200 Brussels, Belgium

[19] Isala Clin, Zwolle, Netherlands

[20] Zvezdara Univ, Med Ctr, Ctr Renal Dis, Belgrade, Serbia

[21] Epsom & St Helier Univ Hosp NHS Trust, SW Thames Inst Renal Res, Carshalton, Surrey, England

[22] Rheinisch Westfael Tech Hsch Univ Hosp Aachen, Dept Human Genet, Aachen, Germany

[23] London Sch Hyg & Trop Med, London WC1, England

[24] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

[25] NIA, Clin Res Branch, Longitudinal Studies Sect, Baltimore, MD 21224 USA

[26] RWTH Univ Hosp Aachen, Dept Nephrol & Clin Immunol, Aachen, Germany

[27] Addenbrookes Hosp, Inst Metab Sci, Epidemiol Unit, MRC, Cambridge, England

[28] Univ Groningen, Univ Med Ctr Groningen, Dept Internal Med, Groningen, Netherlands

[29] Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA

[30] Lund Univ, Dept Clin Sci, Malmo, Sweden

[31] Univ Med Ctr Groningen, Dept Nephrol, NL-9713 AV Groningen, Netherlands

[32] Univ Med Ctr Groningen, Dept Transplantat Immunol, NL-9713 AV Groningen, Netherlands

[33] UCL, Inst Child Hlth, Ctr Epidemiol Child Hlth, London, England

[34] Univ Lausanne, Dept Med Genet, Lausanne, Switzerland

[35] Swiss Inst Bioinformat, Lausanne, Switzerland

[36] Langerhans Med Res Grp, Zwolle, Netherlands

[37] Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Unit Genet Epidemiol & Bioinformat, Groningen, Netherlands

[38] Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, Stockholm, Sweden

[39] Univ Maryland, Sch Med, Div Nephrol, Baltimore, MD 21201 USA

[40] Wellcome Trust Sanger Inst, Cambridge, England

[41] Biomedicum Helsinki 2U, Nord European Mol Biol Lab EMBL Partnership Mol M, Inst Mol Med Finland, Helsinki, Finland

[42] Univ Helsinki, Helsinki, Finland

[43] Natl Inst Hlth & Welf, Helsinki, Finland

[44] Vrije Univ Amsterdam, Med Ctr, Inst Res Extramural Med EMGO, Dept Psychiat, Amsterdam, Netherlands

[45] Leiden Univ, Med Ctr, Dept Psychiat, Leiden, Netherlands

[46] Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, Groningen, Netherlands

[47] Univ Oulu, Inst Hlth Sci, Oulu, Finland

[48] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

[49] Oxford Ctr Diabet Endocrinol & Metab, Oxford, England

[50] Oxford NIHR Biomed Res Ctr, Oxford, England

来源：

NATURE GENETICS | 2010年 / 42卷 / 05期

基金：

英国生物技术与生命科学研究理事会; 英国惠康基金; 英国医学研究理事会;

关键词：

OCT2;

D O I：

10.1038/ng.566

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Using genome-wide association, we identify common variants at 2p12-p13, 6q26, 17q23 and 19q13 associated with serum creatinine, a marker of kidney function (P = 10(-10) to 10(-15)). Of these, rs10206899 (near NAT8, 2p12-p13) and rs4805834 (near SLC7A9, 19q13) were also associated with chronic kidney disease (P = 5.0 x 10(-5) and P = 3.6 x 10(-4), respectively). Our findings provide insight into metabolic, solute and drug-transport pathways underlying susceptibility to chronic kidney disease.

引用

页码：373 / 375

页数：3

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