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Genome-wide association and functional follow-up reveals new loci for kidney function
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نویسنده
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pattaro c. ,köttgen a. ,teumer a. ,garnaas m. ,böger c.a. ,fuchsberger c. ,olden m. ,chen m.-h. ,tin a. ,taliun d. ,li m. ,gao x. ,gorski m. ,yang q. ,hundertmark c. ,foster m.c. ,o'seaghdha c.m. ,glazer n. ,isaacs a. ,liu c.-t. ,smith a.v. ,o'connell j.r. ,struchalin m. ,tanaka t. ,li g. ,johnson a.d. ,gierman h.j. ,feitosa m. ,hwang s.-j. ,atkinson e.j. ,lohman k. ,cornelis m.c. ,johansson a. ,tönjes a. ,dehghan a. ,chouraki v. ,holliday e.g. ,sorice r. ,kutalik z. ,lehtimäki t. ,esko t. ,deshmukh h. ,ulivi s. ,chu a.y. ,murgia f. ,trompet s. ,imboden m. ,kollerits b. ,pistis g. ,harris t.b. ,launer l.j. ,aspelund t. ,eiriksdottir g. ,mitchell b.d. ,boerwinkle e. ,schmidt h. ,cavalieri m. ,rao m. ,hu f.b. ,demirkan a. ,oostra b.a. ,de andrade m. ,turner s.t. ,ding j. ,andrews j.s. ,freedman b.i. ,koenig w. ,illig t. ,döring a. ,wichmann h.-e. ,kolcic i. ,zemunik t. ,boban m. ,minelli c. ,wheeler h.e. ,igl w. ,zaboli g. ,wild s.h. ,wright a.f. ,campbell h. ,ellinghaus d. ,nöthlings u. ,jacobs g. ,biffar r. ,endlich k. ,ernst f. ,homuth g. ,kroemer h.k. ,nauck m. ,stracke s. ,völker u. ,völzke h. ,kovacs p. ,stumvoll m. ,mägi r. ,hofman a. ,uitterlinden a.g. ,rivadeneira f. ,aulchenko y.s. ,polasek o. ,hastie n. ,vitart v. ,helmer c. ,wang j.j. ,ruggiero d. ,bergmann s. ,kähönen m. ,viikari j. ,nikopensius t. ,province m. ,ketkar s. ,colhoun h. ,doney a. ,robino a. ,giulianini f. ,krämer b.k. ,portas l. ,ford i. ,buckley b.m. ,adam m. ,thun g.-a. ,paulweber b. ,haun m. ,sala c. ,metzger m. ,mitchell p. ,ciullo m. ,kim s.k. ,vollenweider p. ,raitakari o. ,metspalu a. ,palmer c. ,gasparini p. ,pirastu m. ,jukema j.w. ,probst-hensch n.m. ,kronenberg f. ,toniolo d. ,gudnason v. ,shuldiner a.r. ,coresh j. ,schmidt r. ,ferrucci l. ,siscovick d.s. ,van duijn c.m. ,borecki i. ,kardia s.l.r. ,liu y. ,curhan g.c. ,rudan i. ,gyllensten u. ,wilson j.f. ,franke a. ,pramstaller p.p. ,rettig r. ,prokopenko i. ,witteman j.c.m. ,hayward c. ,ridker p. ,parsa a. ,bochud m. ,heid i.m. ,goessling w. ,chasman d.i. ,kao w.h.l. ,fox c.s.
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منبع
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plos genetics - 2012 - دوره : 8 - شماره : 3
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چکیده
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Chronic kidney disease (ckd) is an important public health problem with a genetic component. we performed genome-wide association studies in up to 130,600 european ancestry participants overall,and stratified for key ckd risk factors. we uncovered 6 new loci in association with estimated glomerular filtration rate (egfr),the primary clinical measure of ckd,in or near mpped2,ddx1,slc47a1,cdk12,casp9,and ino80. morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance,suggesting a role for these genes in renal function. by providing new insights into genes that regulate renal function,these results could further our understanding of the pathogenesis of ckd. © 2012 pattaro et al. this is an open-access article distributed under the terms of the creative commons attribution license,which permits unrestricted use,distribution,and reproduction in any medium,provided the original author and source are credited.
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آدرس
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institute of genetic medicine,european academy of bozen/bolzano (eurac),affiliated institute of the university of lübeck,bolzano, Italy, department of epidemiology,johns hopkins bloomberg school of public health,baltimore,md,united states,renal division,freiburg university clinic,freiburg, Germany, interfaculty institute for genetics and functional genomics,university of greifswald,greifswald, Germany, division of genetics,department of medicine,brigham and women's hospital,harvard medical school,boston,ma, United States, department of internal medicine ii,university medical center regensburg,regensburg, Germany, center for statistical genetics,department of biostatistics,university of michigan,ann arbor,mi, United States, department of internal medicine ii,university hospital regensburg,regensburg,germany,department of epidemiology and preventive medicine,regensburg university medical center,regensburg, Germany, department of neurology,boston university school of medicine,boston,ma,united states,department of biostatistics,boston university school of public health,boston,ma, United States, department of epidemiology,johns hopkins bloomberg school of public health,baltimore,md, United States, institute of genetic medicine,european academy of bozen/bolzano (eurac),affiliated institute of the university of lübeck,bolzano, Italy, department of epidemiology,johns hopkins bloomberg school of public health,baltimore,md, United States, division of statistical genomics,washington university school of medicine,st. louis,mo, United States, department of epidemiology and preventive medicine,university hospital regensburg,regensburg,germany,institute of epidemiology i,helmholtz zentrum mü nchen,german research center for environmental health,neuherberg, Germany, department of biostatistics,boston university school of public health,boston,ma, United States, renal division,freiburg university clinic,freiburg, Germany, national heart,lung,and blood institute's framingham heart study,center for population studies,framingham,ma, United States, national heart,lung,and blood institute's framingham heart study,center for population studies,framingham,ma,united states,division of nephrology,brigham and women's hospital and harvard medical school,boston,ma, United States, section of preventive medicine and epidemiology,department of medicine,boston university school of medicine,boston,ma, United States, genetic epidemiology unit,department of epidemiology,erasmus university medical center,rotterdam,netherlands,centre for medical systems biology,leiden, Netherlands, department of biostatistics,boston university school of public health,boston,ma, United States, icelandic heart association,research institute,kopavogur,iceland,university of iceland,reykjavik, Iceland, department of medicine,university of maryland medical school,baltimore,md, United States, department of epidemiology and biostatistics and department of forensic molecular biology,erasmus university medical centre,rotterdam, Netherlands, clinical research branch,national institute of aging,baltimore,md, United States, university of washington,seattle,wa, United States, national heart,lung,and blood institute's framingham heart study,center for population studies,framingham,ma, United States, department of developmental biology,stanford university,stanford,ca, United States, division of statistical genomics,washington university school of medicine,st. louis,mo, United States, national heart,lung,and blood institute's framingham heart study,center for population studies,framingham,ma, United States, division of biomedical statistics and informatics,mayo clinic,rochester,mn, United States, department of epidemiology and prevention,public health sciences,wake forest school of medicine,winston-salem,nc, United States, department of nutrition,harvard school of public health,boston,ma, United States, genetics and pathology,rudbeck laboratory,uppsala university,uppsala, Sweden, department of medicine,university of leipzig,leipzig,germany,ifb adiposity diseases,university of leipzig,leipzig, Germany, department of epidemiology,erasmus university medical center,rotterdam, Netherlands, inserm umr744,institut pasteur,lille, France, centre for clinical epidemiology and biostatistics,school of medicine and public health,university of newcastle,newcastle,australia,centre for information-based medicine,hunter medical research institute,newcastle, Australia, institute of genetics and biophysics adriano-buzzati traverso-cnr,napoli, Italy, department of medical genetics,university of lausanne,lausanne,switzerland,swiss institute of bioinformatics,lausanne, Switzerland, department of clinical chemistry,university of tampere and tampere university hospital,centre for laboratory medicine tampere finn-medi 2,tampere, Finland, estonian genome center of university of tartu (egcut),tartu,estonia,estonian biocenter and institute of molecular and cell biology,university of tartu,tartu, Estonia, wellcome trust centre for molecular medicine,clinical research centre,ninewells hospital,university of dundee,dundee, United Kingdom, institute for maternal and child health - irccs burlo garofolo,trieste, Italy, brigham and women's hospital,boston,ma, United States, institute of population genetics - cnr,sassari, Italy, department of cardiology,leiden university medical center,leiden, Netherlands, unit of chronic disease epidemiology,swiss tropical and public health institute,basel, Switzerland, division of genetic epidemiology,innsbruck medical university,innsbruck, Austria, division of genetics and cell biology,san raffaele scientific institute,milano, Italy, laboratory of epidemiology,demography,and biometry,nia,bethesda,md, United States, laboratory of epidemiology,demography,and biometry,nia,bethesda,md, United States, icelandic heart association,research institute,kopavogur,iceland,university of iceland,reykjavik, Iceland, icelandic heart association,research institute,kopavogur, Iceland, department of medicine,university of maryland medical school,baltimore,md, United States, human genetics center,university of texas health science center,houston,tx, United States, austrian stroke prevention study,institute of molecular biology and biochemistry and department of neurology,medical university graz,graz, Austria, austrian stroke prevention study,university clinic of neurology,department of special neurology,medical university graz,graz, Austria, division of nephrology/ tufts evidence practice center,tufts university school of medicine,tufts medical center,boston,ma, United States, department of nutrition,harvard school of public health,boston,ma, United States, genetic epidemiology unit,department of epidemiology,erasmus university medical center,rotterdam, Netherlands, genetic epidemiology unit,department of epidemiology,erasmus university medical center,rotterdam, Netherlands, division of biomedical statistics and informatics,mayo clinic,rochester,mn, United States, department of internal medicine,division of nephrology and hypertension,mayo clinic,rochester,mn, United States, department of internal medicine/geriatrics,wake forest school of medicine,winston-salem,nc, United States, department of biostatistical sciences,public health sciences,wake forest school of medicine,winston-salem,nc, United States, department of internal medicine,wake forest school of medicine,winston-salem,nc, United States, abteilung innere ii,universitätsklinikum ulm,ulm, Germany, institute of epidemiology ii,helmholtz zentrum münchen,german research center for environmental health,neuherberg, Germany, institute of epidemiology i,helmholtz zentrum mü nchen,german research center for environmental health,neuherberg,germany,institute of epidemiology ii,helmholtz zentrum münchen,german research center for environmental health,neuherberg, Germany, institute of epidemiology i,helmholtz zentrum mü nchen,german research center for environmental health,neuherberg,germany,institute of medical informatics,biometry,and epidemiology,ludwig-maximilians-universität,munich,germany,klinikum grosshadern,neuherberg, Germany, croatian centre for global health,university of split medical school,split, Croatia, croatian centre for global health,university of split medical school,split, Croatia, croatian centre for global health,university of split medical school,split, Croatia, institute of genetic medicine,european academy of bozen/bolzano (eurac),affiliated institute of the university of lübeck,bolzano, Italy, department of genetics,stanford university,stanford,ca,united states,department of medicine,university of chicago,chicago,il, United States, genetics and pathology,rudbeck laboratory,uppsala university,uppsala, Sweden, genetics and pathology,rudbeck laboratory,uppsala university,uppsala, Sweden, center for population health sciences,university of edinburgh medical school,edinburgh, United Kingdom, mrc human genetics unit,institute of genetics and molecular medicine,western general hospital,edinburgh, United Kingdom, center for population health sciences,university of edinburgh medical school,edinburgh, United Kingdom, institute of clinical molecular biology,christian-albrechts university,kiel, Germany, institute of clinical molecular biology,christian-albrechts university,kiel,germany,popgen biobank,university hospital schleswig-holstein,kiel, Germany, institute of clinical molecular biology,christian-albrechts university,kiel,germany,popgen biobank,university hospital schleswig-holstein,kiel, Germany, clinic for prosthodontic dentistry,gerostomatology,and material science,university of greifswald,greifswald, Germany, institute of anatomy and cell biology,university of greifswald,greifswald, Germany, interfaculty institute for genetics and functional genomics,university of greifswald,greifswald, Germany, interfaculty institute for genetics and functional genomics,university of greifswald,greifswald, Germany, institute of pharmacology,university of greifswald,greifswald, Germany, institute of clinical chemistry and laboratory medicine,ernst-moritz-arndt-university greifswald,greifswald, Germany, clinic for internal medicine a,university of greifswald,greifswald, Germany, interfaculty institute for genetics and functional genomics,university of greifswald,greifswald, Germany, institute for community medicine,university of greifswald,greifswald, Germany, department of medicine,university of leipzig,leipzig, Germany, department of medicine,university of leipzig,leipzig,germany,ifb adiposity diseases,university of leipzig,leipzig, Germany, estonian genome center of university of tartu (egcut),tartu,estonia,wellcome trust centre for human genetics,oxford centre for diabetes,endocrinology,and metabolism,university of oxford,oxford, United Kingdom, department of epidemiology,erasmus university medical center,rotterdam, Netherlands, department of internal medicine,erasmus university medical center,rotterdam, Netherlands, department of internal medicine,erasmus university medical center,rotterdam, Netherlands, department of epidemiology,erasmus university medical center,rotterdam, Netherlands, croatian centre for global health,faculty of medicine,university of split,split, Croatia, mrc human genetics unit,institute of genetics and molecular medicine,western general hospital,edinburgh, United Kingdom, mrc human genetics unit,institute of genetics and molecular medicine,western general hospital,edinburgh, United Kingdom, inserm u897,universitévictor ségalen bordeaux 2,isped,bordeaux,france,universitébordeaux 2 victor segalen,bordeaux, France, centre for vision research,westmead millennium institute,westmead hospital,university of sydney,sydney,australia,centre for eye research australia (cera),university of melbourne,melbourne, Australia, institute of genetics and biophysics adriano-buzzati traverso-cnr,napoli, Italy, swiss institute of bioinformatics,lausanne, Switzerland, department of clinical physiology,university of tampere and tampere university hospital,tampere, Finland, department of medicine,university of turku and turku university hospital,turku, Finland, estonian biocenter and institute of molecular and cell biology,university of tartu,tartu, Estonia, division of statistical genomics,washington university school of medicine,st. louis,mo, United States, division of statistical genomics,washington university school of medicine,st. louis,mo, United States, wellcome trust centre for molecular medicine,clinical research centre,ninewells hospital,university of dundee,dundee, United Kingdom, nhs tayside,wellcome trust centre for molecular medicine,clinical research centre,ninewells hospital,university of dundee,dundee, United Kingdom, institute for maternal and child health,irccs burlo garofolo,university of trieste,trieste, Italy, brigham and women's hospital,boston,ma, United States, university medical centre mannheim,5th department of medicine,mannheim, Germany, institute of population genetics - cnr,sassari, Italy, robertson centre for biostatistics,university of glasgow,glasgow, United Kingdom, department of pharmacology and therapeutics,university college cork,cork, Ireland, unit of chronic disease epidemiology,swiss tropical and public health institute,basel, Switzerland, unit of chronic disease epidemiology,swiss tropical and public health institute,basel, Switzerland, first department of internal medicine,paracelsus medical university,salzburg, Austria, division of genetic epidemiology,innsbruck medical university,innsbruck, Austria, division of genetics and cell biology,san raffaele scientific institute,milano, Italy, inserm umrs 1018,cesp team 10,universitéparis sud,villejuif, France, centre for vision research,westmead millennium institute,westmead hospital,university of sydney,sydney, Australia, institute of genetics and biophysics adriano-buzzati traverso-cnr,napoli, Italy, department of developmental biology,stanford university,stanford,ca,united states,department of genetics,stanford university,stanford,ca, United States, department of internal medicine,centre hospitalier universitaire vaudois,lausanne, Switzerland, research centre of applied and preventive cardiovascular medicine,department of clinical physiology,turku university hospital,university of turku,turku, Finland, estonian genome center of university of tartu (egcut),tartu,estonia,estonian biocenter and institute of molecular and cell biology,university of tartu,tartu, Estonia, biomedical research institute,ninewells hospital and medical school,university of dundee,dundee, United Kingdom, institute for maternal and child health,irccs burlo garofolo,university of trieste,trieste, Italy, institute of population genetics - cnr,sassari, Italy, department of cardiology,leiden university medical center,leiden,netherlands,interuniversity cardiology institute of the netherlands (icin),utrecht,netherlands,einthoven laboratory for experimental vascular medicine,leiden,netherlands,durrer center for cardiogenetic research,amsterdam, Netherlands, unit of chronic disease epidemiology,swiss tropical and public health institute,basel, Switzerland, division of genetic epidemiology,innsbruck medical university,innsbruck, Austria, division of genetics and cell biology,san raffaele scientific institute,milano, Italy, icelandic heart association,research institute,kopavogur,iceland,university of iceland,reykjavik, Iceland, department of medicine,university of maryland medical school,baltimore,md,united states,geriatric research and education clinical center,veterans administration medical center,baltimore,md, United States, department of epidemiology,johns hopkins bloomberg school of public health,baltimore,md,united states,welch center for prevention,epidemiology,and clinical research,baltimore,md, United States, austrian stroke prevention study,university clinic of neurology,department of special neurology,medical university graz,graz, Austria, clinical research branch,national institute of aging,baltimore,md, United States, university of washington,seattle,wa, United States, genetic epidemiology unit,department of epidemiology,erasmus university medical center,rotterdam, Netherlands, division of statistical genomics,washington university school of medicine,st. louis,mo, United States, department of epidemiology,school of public health,university of michigan,ann arbor,mi, United States, department of epidemiology and prevention,public health sciences,wake forest school of medicine,winston-salem,nc, United States, brigham and women's hospital and channing laboratory,harvard medical school,boston,ma, United States, center for population health sciences,university of edinburgh medical school,edinburgh, United Kingdom, genetics and pathology,rudbeck laboratory,uppsala university,uppsala, Sweden, center for population health sciences,university of edinburgh medical school,edinburgh, United Kingdom, institute of clinical molecular biology,christian-albrechts university,kiel, Germany, institute of genetic medicine,european academy of bozen/bolzano (eurac),affiliated institute of the university of lübeck,bolzano, Italy, institute of physiology,university of greifswald,greifswald, Germany, wellcome trust centre for human genetics,oxford centre for diabetes,endocrinology,and metabolism,university of oxford,oxford, United Kingdom, department of epidemiology,erasmus university medical center,rotterdam, Netherlands, mrc human genetics unit,institute of genetics and molecular medicine,western general hospital,edinburgh, United Kingdom, brigham and women's hospital,boston,ma,united states,harvard medical school,boston,ma, United States, division of nephrology,university of maryland medical school,baltimore,md, United States, university institute of social and preventive medicine,centre hospitalier universitaire vaudois and university of lausanne,epalinges, Switzerland, department of epidemiology and preventive medicine,university hospital regensburg,regensburg,germany,institute of epidemiology i,helmholtz zentrum münchen,german research center for environmental health,neuherberg, Germany, divisions of genetics and gastroenterology,department of internal medicine,brigham and women's hospital,boston,ma,united states,harvard stem cell institute,harvard university,cambridge,ma, United States, brigham and women's hospital,boston,ma,united states,harvard medical school,boston,ma, United States, department of epidemiology,johns hopkins bloomberg school of public health,baltimore,md,united states,welch center for prevention,epidemiology,and clinical research,baltimore,md, United States, national heart,lung,and blood institute's framingham heart study,center for population studies,framingham,ma,united states,division of endocrinology,brigham and women's hospital and harvard medical school,boston,ma, United States
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