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 Forschungsbericht für das Jahr 2017

Institut für Medizinische Biometrie und Statistik

Abteilung für Genetische Epidemiologie

Berliner Allee 29
79110 Freiburg
Tel: +49 761 270 78050
Email anna.koettgen@uniklinik-freiburg.de
https://portal.uni-freiburg.de/imbi/GE


Einträge in der Rubrik "Who is Who"

Wissenschaftliche Publikationen

Originalarbeiten in wissenschaftlichen Fachzeitschriften:
  • Barua M, John R, Stella L, Li W, Roslin NM, Sharif B, Hack S, Lajoie-Starkell G, Schwaderer AL, Becknell B, Wuttke M, Kottgen A, Cattran D, Paterson AD, Pei Y: X-Linked Glomerulopathy Due to COL4A5 Founder Variant. [Epub ahead of print] Am J Kidney Dis, 2017. : http://dx.doi.org/10.1053/j.ajkd.2017.09.005 (in Druck)
  • Chu AY, Tin A, Schlosser P, Ko YA, Qiu C, Yao C, Joehanes R, Grams ME, Liang L, Gluck CA, Liu C, Coresh J, Hwang SJ, Levy D, Boerwinkle E, Pankow JS, Yang Q, Fornage M, Fox CS, Susztak K, Kottgen A: Epigenome-wide association studies identify DNA methylation associated with kidney function. Nat Commun, 2017; 8 (1): 1286-1286. : http://dx.doi.org/10.1038/s41467-017-01297-7
  • Coassin S, Erhart G, Weissensteiner H, Eca Guimaraes de Araujo M, Lamina C, Schonherr S, Forer L, Haun M, Losso JL, Kottgen A, Schmidt K, Utermann G, Peters A, Gieger C, Strauch K, Finkenstedt A, Bale R, Zoller H, Paulweber B, Eckardt KU, Huttenhofer A, Huber LA, Kronenberg F: A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction. Eur Heart J, 2017; 38 (23): 1823-1831. : http://dx.doi.org/10.1093/eurheartj/ehx174
  • Gorski M, Most PJV, Teumer A, Chu AY, Li M, Mijatovic V, Nolte IM, Cocca M, Taliun D, Gomez F, Li Y, Tayo B, Tin A, Feitosa MF, Aspelund T, Attia J, Biffar R, Bochud M, Boerwinkle E, Borecki I, Bottinger EP, Chen MH, Chouraki V, Ciullo M, Coresh J, Cornelis MC, Curhan GC, Adamo AP, Dehghan A, Dengler L, Ding J, Eiriksdottir G, Endlich K, Enroth S, Esko T, Franco OH, Gasparini P, Gieger C, Girotto G, Gottesman O, Gudnason V, Gyllensten U, Hancock SJ, Harris TB, Helmer C, Hollerer S, Hofer E, Hofman A, Holliday EG, Homuth G, Hu FB, Huth C, Hutri-Kahonen N, Hwang SJ, Imboden M, Johansson A, Kahonen M, Konig W, Kramer H, Kramer BK, Kumar A, Kutalik Z, Lambert JC, Launer LJ, Lehtimaki T, de Borst MH, Navis G, Swertz M, Liu Y, Lohman K, Loos RJF, Lu Y, Lyytikainen LP, McEvoy MA, Meisinger C, Meitinger T, Metspalu A, Metzger M, Mihailov E, Mitchell P, Nauck M, Oldehinkel AJ, Olden M, Wjh Penninx B, Pistis G, Pramstaller PP, Probst-Hensch N, Raitakari OT, Rettig R, Ridker PM, Rivadeneira F, Robino A, Rosas SE, Ruderfer D, Ruggiero D, Saba Y, Sala C, Schmidt H, Schmidt R, Scott RJ, Sedaghat S, Smith AV, Sorice R, Stengel B, Stracke S, Strauch K, Toniolo D, Uitterlinden AG, Ulivi S, Viikari JS, Volker U, Vollenweider P, Volzke H, Vuckovic D, Waldenberger M, Wang JJ, Yang Q, Chasman DI, Tromp G, Snieder H, Heid IM, Fox CS, Kottgen A, Pattaro C, Boger CA, Fuchsberger C: Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Sci Rep-uk, 2017; 7 (online): 46835-46835. : http://dx.doi.org/10.1038/srep46835
  • Gorski M, van der Most PJ, Teumer A, Chu AY, Li M, Mijatovic V, Nolte IM, Cocca M, Taliun D, Gomez F, Li Y, Tayo B, Tin A, Feitosa MF, Aspelund T, Attia J, Biffar R, Bochud M, Boerwinkle E, Borecki I, Bottinger EP, Chen MH, Chouraki V, Ciullo M, Coresh J, Cornelis MC, Curhan GC, d'Adamo AP, Dehghan A, Dengler L, Ding J, Eiriksdottir G, Endlich K, Enroth S, Esko T, Franco OH, Gasparini P, Gieger C, Girotto G, Gottesman O, Gudnason V, Gyllensten U, Hancock SJ, Harris TB, Helmer C, Hollerer S, Hofer E, Hofman A, Holliday EG, Homuth G, Hu FB, Huth C, Hutri-Kahonen N, Hwang SJ, Imboden M, Johansson A, Kahonen M, Konig W, Kramer H, Kramer BK, Kumar A, Kutalik Z, Lambert JC, Launer LJ, Lehtimaki T, de Borst MH, Navis G, Swertz M, Liu Y, Lohman K, Loos RJF, Lu Y, Lyytikainen LP, McEvoy MA, Meisinger C, Meitinger T, Metspalu A, Metzger M, Mihailov E, Mitchell P, Nauck M, Oldehinkel AJ, Olden M, Wjh Penninx B, Pistis G, Pramstaller PP, Probst-Hensch N, Raitakari OT, Rettig R, Ridker PM, Rivadeneira F, Robino A, Rosas SE, Ruderfer D, Ruggiero D, Saba Y, Sala C, Schmidt H, Schmidt R, Scott RJ, Sedaghat S, Smith AV, Sorice R, Stengel B, Stracke S, Strauch K, Toniolo D, Uitterlinden AG, Ulivi S, Viikari JS, Volker U, Vollenweider P, Volzke H, Vuckovic D, Waldenberger M, Jin Wang J, Yang Q, Chasman DI, Tromp G, Snieder H, Heid IM, Fox CS, Kottgen A, Pattaro C, Boger CA, Fuchsberger C: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Sci Rep-uk, 2017; 7 (online): 45040-45040. : http://dx.doi.org/10.1038/srep45040
  • Grams ME, Tin A, Rebholz CM, Shafi T, Kottgen A, Perrone RD, Sarnak MJ, Inker LA, Levey AS, Coresh J: Metabolomic Alterations Associated with Cause of CKD. Clin J Am Soc Nephro, 2017; 12 (11): 1787-1794. : http://dx.doi.org/10.2215/CJN.02560317
  • Gupta S, Kottgen A, Hoxha E, Brenchley P, Bockenhauer D, Stanescu HC, Kleta R: Genetics of membranous nephropathy. Nephrol Dial Transpl, 2017. : http://dx.doi.org/10.1093/ndt/gfx296
  • Haddad C, Chosidow O, Valeyrie-Allanore L, Ghaleh B, Legrand T, Mockenhaupt M, Barau C, Khoudour N, Sekula P, Wolkenstein P, Hulin A: Are Idiopathic Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Related to Drugs in Food? The Example of Phenylbutazone. J Invest Dermatol, 2017; 137 (5): 1179-1181. : http://dx.doi.org/10.1016/j.jid.2016.11.041
  • Jeserich M, Merkely B, Schlosser P, Kimmel S, Pavlik G, Achenbach S: Assessment of edema using STIR+ via 3D cardiovascular magnetic resonance imaging in patients with suspected myocarditis. Magn Reson Mater Phy, 2017; 30 (3): 309-316. : http://dx.doi.org/10.1007/s10334-016-0603-y
  • Jeserich M, Merkely B, Schlosser P, Kimmel S, Pavlik G, Biermann J: Early diastolic septal movement in patients with myocarditis. [epub ahead of print] Clin Radiol, 2017. : http://dx.doi.org/10.1016/j.crad.2017.09.008 (in Druck)
  • Ko YA, Yi H, Qiu C, Huang S, Park J, Ledo N, Kottgen A, Li H, Rader DJ, Pack MA, Brown CD, Susztak K: Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease. Am J Hum Genet, 2017; 100 (6): 940-953. : http://dx.doi.org/10.1016/j.ajhg.2017.05.004
  • Levin A, Tonelli M, Bonventre J, Coresh J, Donner JA, Fogo AB, Fox CS, Gansevoort RT, Heerspink HJL, Jardine M, Kasiske B, Kottgen A, Kretzler M, Levey AS, Luyckx VA, Mehta R, Moe O, Obrador G, Pannu N, Parikh CR, Perkovic V, Pollock C, Stenvinkel P, Tuttle KR, Wheeler DC, Eckardt KU: Global kidney health 2017 and beyond: a roadmap for closing gaps in care, research, and policy. Lancet, 2017; 390 (10105): 1888-1917. : http://dx.doi.org/10.1016/S0140-6736(17)30788-2
  • Li M, Carey J, Cristiano S, Susztak K, Coresh J, Boerwinkle E, Kao WH, Beaty TH, Kottgen A, Scharpf RB: Genome-Wide Association of Copy Number Polymorphisms and Kidney Function. Plos One, 2017; 12 (1) (online). : http://dx.doi.org/10.1371/journal.pone.0170815
  • Li M, Maruthur NM, Loomis SJ, Pietzner M, North KE, Mei H, Morrison AC, Friedrich N, Pankow JS, Nauck M, Boerwinkle E, Teumer A, Selvin E, Kottgen A: Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism. Sci Rep-uk, 2017; 7 (1) (online): 2812-2812. : http://dx.doi.org/10.1038/s41598-017-02287-x
  • Li M *, Li Y *, Weeks O, Mijatovic V, Teumer A, Huffman JE, Tromp G, Fuchsberger C, Gorski M, Lyytikainen LP, Nutile T, Sedaghat S, Sorice R, Tin A, Yang Q, Ahluwalia TS, Arking DE, Bihlmeyer NA, Boger CA, Carroll RJ, Chasman DI, Cornelis MC, Dehghan A, Faul JD, Feitosa MF, Gambaro G, Gasparini P, Giulianini F, Heid I, Huang J, Imboden M, Jackson AU, Jeff J, Jhun MA, Katz R, Kifley A, Kilpelainen TO, Kumar A, Laakso M, Li-Gao R, Lohman K, Lu Y, Magi R, Malerba G, Mihailov E, Mohlke KL, Mook-Kanamori DO, Robino A, Ruderfer D, Salvi E, Schick UM, Schulz CA, Smith AV, Smith JA, Traglia M, Yerges-Armstrong LM, Zhao W, Goodarzi MO, Kraja AT, Liu C, Wessel J, Boerwinkle E, Borecki IB, Bork-Jensen J, Bottinger EP, Braga D, Brandslund I, Brody JA, Campbell A, Carey DJ, Christensen C, Coresh J, Crook E, Curhan GC, Cusi D, de Boer IH, de Vries AP, Denny JC, Devuyst O, Dreisbach AW, Endlich K, Esko T, Franco OH, Fulop T, Gerhard GS, Glumer C, Gottesman O, Grarup N, Gudnason V, Harris TB, Hayward C, Hocking L, Hofman A, Hu FB, Husemoen LL, Jackson RD, Jorgensen T, Jorgensen ME, Kahonen M, Kardia SL, Konig W, Kooperberg C, Kriebel J, Launer LJ, Lauritzen T, Lehtimaki T, Levy D, Linksted P, Linneberg A, Liu Y, Loos RJ, Lupo A, Meisinger C, Melander O, Metspalu A, Mitchell P, Nauck M, Nurnberg P, Orho-Melander M, Parsa A, Pedersen O, Peters A, Peters U, Polasek O, Porteous D, Probst-Hensch NM, Psaty BM, Qi L, Raitakari OT, Reiner AP, Rettig R, Ridker PM, Rivadeneira F, Rossouw JE, Schmidt F, Siscovick D, Soranzo N, Strauch K, Toniolo D, Turner ST, Uitterlinden AG, Ulivi S, Velayutham D, Volker U, Volzke H, Waldenberger M, Wang JJ, Weir DR, Witte D, Kuivaniemi H, Fox CS, Franceschini N, Goessling W, Köttgen A, Chu AY: SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. J Am Soc Nephrol, 2017; 28 (3): 981-994. : http://dx.doi.org/10.1681/ASN.2016020131
  • Martin SS, Daya N, Lutsey PL, Matsushita K, Fretz A, McEvoy JW, Blumenthal RS, Coresh J, Greenland P, Kottgen A, Selvin E: Thyroid Function, Cardiovascular Risk Factors, and Incident Atherosclerotic Cardiovascular Disease: The Atherosclerosis Risk in Communities (ARIC) Study. [Epub ahead of print] J Clin Endocr Metab, 2017; 102 (9): 3306-3315. : http://dx.doi.org/10.1210/jc.2017-00986
  • Matsushita K, Ballew SH, Coresh J, Arima H, Arnlov J, Cirillo M, Ebert N, Hiramoto JS, Kimm H, Shlipak MG, Visseren FLJ, Gansevoort RT, Kovesdy CP, Shalev V, Woodward M, Kronenberg F: Measures of chronic kidney disease and risk of incident peripheral artery disease: a collaborative meta-analysis of individual participant data. Lancet Diabetes Endo, 2017; 5 (9): 718-728. : http://dx.doi.org/10.1016/S2213-8587(17)30183-3
  • Nolte IM, Munoz ML, Tragante V, Amare AT, Jansen R, Vaez A, von der Heyde B, Avery CL, Bis JC, Dierckx B, van Dongen J, Gogarten SM, Goyette P, Hernesniemi J, Huikari V, Hwang SJ, Jaju D, Kerr KF, Kluttig A, Krijthe BP, Kumar J, van der Laan SW, Lyytikainen LP, Maihofer AX, Minassian A, van der Most PJ, Muller-Nurasyid M, Nivard M, Salvi E, Stewart JD, Thayer JF, Verweij N, Wong A, Zabaneh D, Zafarmand MH, Abdellaoui A, Albarwani S, Albert C, Alonso A, Ashar F, Auvinen J, Axelsson T, Baker DG, de Bakker PIW, Barcella M, Bayoumi R, Bieringa RJ, Boomsma D, Boucher G, Britton AR, Christophersen I, Dietrich A, Ehret GB, Ellinor PT, Eskola M, Felix JF, Floras JS, Franco OH, Friberg P, Gademan MGJ, Geyer MA, Giedraitis V, Hartman CA, Hemerich D, Hofman A, Hottenga JJ, Huikuri H, Hutri-Kahonen N, Jouven X, Junttila J, Juonala M, Kiviniemi AM, Kors JA, Kumari M, Kuznetsova T, Laurie CC, Lefrandt JD, Li Y, Li Y, Liao D, Limacher MC, Lin HJ, Lindgren CM, Lubitz SA, Mahajan A, McKnight B, Zu Schwabedissen HM, Milaneschi Y, Mononen N, Morris AP, Nalls MA, Navis G, Neijts M, Nikus K, North KE, O'Connor DT, Ormel J, Perz S, Peters A, Psaty BM, Raitakari OT, Risbrough VB, Sinner MF, Siscovick D, Smit JH, Smith NL, Soliman EZ, Sotoodehnia N, Staessen JA, Stein PK, Stilp AM, Stolarz-Skrzypek K, Strauch K, Sundstrom J, Swenne CA, Syvanen AC, Tardif JC, Taylor KD, Teumer A, Thornton TA, Tinker LE, Uitterlinden AG, van Setten J, Voss A, Waldenberger M, Wilhelmsen KC, Willemsen G, Wong Q, Zhang ZM, Zonderman AB, Cusi D, Evans MK, Greiser HK, van der Harst P, Hassan M, Ingelsson E, Jarvelin MR, Kaab S, Kahonen M, Kivimaki M, Kooperberg C, Kuh D, Lehtimaki T, Lind L, Nievergelt CM, O'Donnell CJ, Oldehinkel AJ, Penninx B, Reiner AP, Riese H, van Roon AM, Rioux JD, Rotter JI, Sofer T, Stricker BH, Tiemeier H, Vrijkotte TGM, Asselbergs FW, Brundel BJJM, Heckbert SR, Whitsel EA, den Hoed M, Snieder H, de Geus EJC: Genetic loci associated with heart rate variability and their effects on cardiac disease risk. Nat Commun, 2017; 8: 15805-15805. : http://dx.doi.org/10.1038/ncomms15805
  • Schubert D, Klein MC, Hassdenteufel S, Caballero-Oteyza A, Yang L, Proietti M, Bulashevska A, Kemming J, Kuhn J, Winzer S, Rusch S, Fliegauf M, Schaffer AA, Pfeffer S, Geiger R, Cavalie A, Cao H, Yang F, Li Y, Rizzi M, Eibel H, Kobbe R, Marks AL, Peppers BP, Hostoffer RW, Puck JM, Zimmermann R, Grimbacher B: Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1). [Epub ahead of print] J Allergy Clin Immun, 2017. : http://dx.doi.org/10.1016/j.jaci.2017.06.042 (in Druck)
  • Schultheiss UT, Daya N, Grams ME, Seufert J, Steffes M, Coresh J, Selvin E, Köttgen A: Thyroid function, reduced kidney function and incident chronic kidney disease in a community-based population: the Atherosclerosis Risk in Communities study. Nephrol Dial Transpl, 2017; 32 (11): 1874-1881. : http://dx.doi.org/10.1093/ndt/gfw301
  • Sekula P, Li Y, Stanescu HC, Wuttke M, Ekici AB, Bockenhauer D, Walz G, Powis SH, Kielstein JT, Brenchley P, Eckardt KU, Kronenberg F, Kleta R, Köttgen A: Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies. Nephrol Dial Transpl, 2017; 32 (2): 325-332. : http://dx.doi.org/10.1093/ndt/gfw001
  • Sekula P, Mallett S, Altman DG, Sauerbrei W: Did the reporting of prognostic studies of tumour markers improve since the introduction of REMARK guideline? A comparison of reporting in published articles. Plos One, 2017; 12 (6) (online): e0178531-e0178531. : http://dx.doi.org/10.1371/journal.pone.0178531
  • Su SC, Mockenhaupt M, Wolkenstein P, Dunant A, Le Gouvello S, Chen CB, Chosidow O, Valeyrie-Allanore L, Bellon T, Sekula P, Wang CW, Schumacher M, Kardaun SH, Hung SI, Roujeau JC, Chung WH: Interleukin-15 Is Associated with Severity and Mortality in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis. J Invest Dermatol, 2017; 137 (5): 1065-1073. : http://dx.doi.org/10.1016/j.jid.2016.11.034
  • Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, Timpson NJ, Evans DM, Willeit P, Aviv A, Gaunt TR, Hemani G, Mangino M, Ellis HP, Kurian KM, Pooley KA, Eeles RA, Lee JE, Fang S, Chen WV, Law MH, Bowdler LM, Iles MM, Yang Q, Worrall BB, Markus HS, Hung RJ, Amos CI, Spurdle AB, Thompson DJ, O'Mara TA, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret NC, Lund E, Duell EJ, Canzian F, Severi G, Overvad K, Gunter MJ, Tumino R, Svenson U, van Rij A, Baas AF, Bown MJ, Samani NJ, van t'Hof FNG, Tromp G, Jones GT, Kuivaniemi H, Elmore JR, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci PM, Neale RE, Olson SH, Gallinger S, Li D, Petersen GM, Risch HA, Klein AP, Han J, Abnet CC, Freedman ND, Taylor PR, Maris JM, Aben KK, Kiemeney LA, Vermeulen SH, Wiencke JK, Walsh KM, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis GR, SanGiovanni JP, Li Y, Mijatovic V, Sapkota Y, Low SK, Zondervan KT, Montgomery GW, Nyholt DR, van Heel DA, Hunt K, Arking DE, Ashar FN, Sotoodehnia N, Woo D, Rosand J, Comeau ME, Brown WM, Silverman EK, Hokanson JE, Cho MH, Hui J, Ferreira MA, Thompson PJ, Morrison AC, Felix JF, Smith NL, Christiano AM, Petukhova L, Betz RC, Fan X, Zhang X, Zhu C, Langefeld CD, Thompson SD, Wang F, Lin X, Schwartz DA, Fingerlin T, Rotter JI, Cotch MF, Jensen RA, Munz M, Dommisch H, Schaefer AS, Han F, Ollila HM, Hillary RP, Albagha O, Ralston SH, Zeng C, Zheng W, Shu XO, Reis A, Uebe S, Huffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd ML, Davila S, Xie G, Siminovitch K, Bei JX, Zeng YX, Forsti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma SF, Foo JN, Liu J, Kim JW, Cox DG, Delattre O, Mirabeau O, Skibola CF, Tang CS, Garcia-Barcelo M, Chang KP, Su WH, Chang YS, Martin NG, Gordon S, Wade TD, Lee C, Kubo M, Cha PC, Nakamura Y, Levy D, Kimura M, Hwang SJ, Hunt S, Spector T, Soranzo N, Manichaikul AW, Barr RG, Kahali B, Speliotes E, Yerges-Armstrong LM, Cheng CY, Jonas JB, Wong TY, Fogh I, Lin K, Powell JF, Rice K, Relton CL, Martin RM, Davey Smith G: Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA Oncol, 2017; 3 (5): 636-651. : http://dx.doi.org/10.1001/jamaoncol.2016.5945
  • Tin A, Scharpf R, Estrella MM, Yu B, Grove ML, Chang PP, Matsushita K, Kottgen A, Arking DE, Boerwinkle E, Le TH, Coresh J, Grams ME: The Loss of GSTM1 Associates with Kidney Failure and Heart Failure. J Am Soc Nephrol, 2017; 28 (11): 3345-3352. : http://dx.doi.org/10.1681/ASN.2017030228
  • Wunnenburger S, Schultheiss UT, Walz G, Hausknecht B, Ekici AB, Kronenberg F, Eckardt KU, Kottgen A, Wuttke M: Associations between genetic risk variants for kidney diseases and kidney disease etiology. Sci Rep-uk, 2017; 7 (1) (online): 13944. : http://dx.doi.org/10.1038/s41598-017-13356-6
  • Zimmermann S, Sekula P, Venhoff M, Motschall E, Knaus J, Schumacher M, Mockenhaupt M: Systemic Immunomodulating Therapies for Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A Systematic Review and Meta-analysis. Jama Dermatol, 2017; 153 (6): 514-522. : http://dx.doi.org/10.1001/jamadermatol.2016.5668

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