Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function
| العنوان: | Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function |
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| المؤلفون: | Afshin Parsa, 1§ Christian Fuchsberger, 2§ Anna Köttgen, 3, 4§ Conall M. O'Seaghdha, 5, 6§ Cristian Pattaro, 7§ Mariza de Andrade, 8§ Daniel I. Chasman, 9, 11 Alexander Teumer, 12 Karlhans Endlich, Matthias Olden, 15 Ming-Huei Chen, 17 Adrienne Tin, 4 Young J. Kim, 125 Daniel Taliun, 7 Man Li, 4 Mary Feitosa, 18 Mathias Gorski, 20 Qiong Yang, 21 Claudia Hundertmark, 22 Meredith C. Foster, 5 Nicole Glazer, 23 Aaron Isaacs, 25 Madhumathi Rao, 26 Albert V. Smith, 28 Jeffrey R. O'Connell, 29 Maksim Struchalin, 30 Toshiko Tanaka, 31 Guo Li, 32 Shih-Jen Hwang, 5 Elizabeth J. Atkinson, 8 Kurt Lohman, 33 Marilyn C. Cornelis, 34 Åsa Johansson, 35 Anke Tönjes, 37 Abbas Dehghan, 38 Vincent Couraki39 Elizabeth G. Holliday, 41 Rossella Sorice, 42 Zoltan Kutalik, 44 Terho Lehtimäki, 45 Tõnu Esko, 47 Harshal Deshmukh, 48 Sheila Ulivi, 49 Audrey Y. Chu, 50 Federico Murgia, 51 Stella Trompet, 52 Medea Imboden, 118 Barbara Kollerits, 54 Giorgio Pistis, 55 Tamara B. Harris, 56 Lenore J. Launer, 56 Thor Aspelund, 28 Gudny Eiriksdottir, 27 Braxton D. Mitchell, 29 Eric Boerwinkle, 57 Helena Schmidt, 58 Edith Hofer, 59 Frank Hu, 34 Ayse Demirkan, 24 Ben A. Oostra, 126 Stephen T. Turner, 60 Jingzhong Ding, 61 Jeanette S. Andrews, 62 Barry I. Freedman, 63 Franco Giulianini, 64 Wolfgang Koenig, 65 Thomas Illig, 116, 117Angela Döring, 20 H.-Erich Wichmann, 68 Lina Zgaga, 69 Tatijana Zemunik, 70 Mladen Boban, 70 Cosetta Minelli, 7 Heather E. Wheeler, 72 Wilmar Igl, 35 Ghazal Zaboli, 35 Sarah H Wild, 69 Alan F Wright, 73 Harry Campbell, 69 David Ellinghaus, 74 Ute Nöthlings, 121, 122 Gunnar Jacobs, 121 Reiner Biffar, 76 Florian Ernst, 12 Georg Homuth, 12 Heyo K. Kroemer, 77 Matthias Nauck, 78 Sylvia Stracke, 79 Uwe Völker, 12 Henry Völzke, 80 Peter Kovacs, 81 Michael Stumvoll, 37 Reedik Mägi, 83 Albert Hofman, 38 Andre G. Uitterlinden, 84 Fernando Rivadeneira, 84 Yurii S Aulchenko, 38 Ozren Polasek, 85 Nick Hastie, 86 Veronique Vitart, 86 Catherine Helmer, 88 Jie Jin Wang, 90 Bénédicte Stengel, 124 Daniela Ruggiero, 42 Sven Bergmann, 44 Mika Kähönen, 92 Jorma Viikari, 93 Tiit Nikopensius, 94 Michael Province, 18 Helen Colhoun, 48 Alex Doney, 95 Antonietta Robino, 49 Bernhard K. Krämer, 96 Laura Portas, 51 Ian Ford, 97 Brendan M. Buckley, 98 Martin Adam, 118 Gian-Andri Thun, 118 Bernhard Paulweber, 99 Margot Haun, 100 Cinzia Sala, 55 Paul Mitchell, 89 Marina Ciullo, 42 Peter Vollenweider, 101 Olli Raitakari, 102 Andres Metspalu, 47 Colin Palmer, 103 Paolo Gasparini, 49 Mario Pirastu, 51 J. Wouter Jukema, 104, 119, 120 Nicole M. Probst-Hensch, 118 Florian Kronenberg, 54 Daniela Toniolo, 128 Vilmundur Gudnason, 28 Alan R. Shuldiner, 105 Josef Coresh, 4, 106 Reinhold Schmidt, 59 Luigi Ferrucci, 31 Cornelia M. van Duijn, 127 Ingrid Borecki, 18 Sharon L.R. Kardia, 107 Yongmei Liu, 33 Gary C. Curhan, 108 Igor Rudan, 69 Ulf Gyllensten, 35 James F. Wilson, 69 Andre Franke, 74 Peter P. Pramstaller, 7 Rainer Rettig, 109 Inga Prokopenko, 123 Jacqueline Witteman, 38 Caroline Hayward, 86 Paul M Ridker, 110 Murielle Bochud, 111 Iris M. Heid, 112, 113 David S. Siscovick, 32§ Caroline S. Fox, 114§ W. Linda Kao, 106§ Carsten A. Böger115§ §Writing/Working group |
| المساهمون: | Parsa, A, Fuchsberger, C, Köttgen, A, O'Seaghdha, Cm, Pattaro, C, de Andrade, M, Chasman, Di, Teumer, A, Endlich, K, Olden, M, Chen, Mh, Tin, A, Kim, Yj, Taliun, D, Li, M, Feitosa, M, Gorski, M, Yang, Q, Hundertmark, C, Foster, Mc, Glazer, N, Isaacs, A, Rao, M, Smith, Av, O'Connell, Jr, Struchalin, M, Tanaka, T, Li, G, Hwang, Sj, Atkinson, Ej, Lohman, K, Cornelis, Mc, Johansson, A, Tönjes, A, Dehghan, A, Couraki, V, Holliday, Eg, Sorice, R, Kutalik, Z, Lehtimäki, T, Esko, T, Deshmukh, H, Ulivi, S, Chu, Ay, Murgia, F, Trompet, S, Imboden, M, Kollerits, B, Pistis, G, Harris, Tb, Launer, Lj, Aspelund, T, Eiriksdottir, G, Mitchell, Bd, Boerwinkle, E, Schmidt, H, Hofer, E, Hu, F, Demirkan, A, Oostra, Ba, Turner, St, Ding, J, Andrews, J, Freedman, Bi, Giulianini, F, Koenig, W, Illig, T, Döring, A, Wichmann, He, Zgaga, L, Zemunik, T, Boban, M, Minelli, C, Wheeler, He, Igl, W, Zaboli, G, Wild, Sh, Wright, Af, Campbell, H, Ellinghaus, D, Nöthlings, U, Jacobs, G, Biffar, R, Ernst, F, Homuth, G, Kroemer, Hk, Nauck, M, Stracke, S, Völker, U, Völzke, H, Kovacs, P, Stumvoll, M, Mägi, R, Hofman, A, Uitterlinden, Ag, Rivadeneira, F, Aulchenko, Y, Polasek, O, Hastie, N, Vitart, V, Helmer, C, Wang, Jj, Stengel, B, Ruggiero, D, Bergmann, S, Kähönen, M, Viikari, J, Nikopensius, T, Province, M, Colhoun, H, Doney, A, Robino, Antonietta, Krämer, Bk, Portas, L, Ford, I, Buckley, Bm, Adam, M, Thun, Ga, Paulweber, B, Haun, M, Sala, C, Mitchell, P, Ciullo, M, Vollenweider, P, Raitakari, O, Metspalu, A, Palmer, C, Gasparini, Paolo, Pirastu, M, Jukema, Jw, Probst Hensch, Nm, Kronenberg, F, Toniolo, D, Gudnason, V, Shuldiner, Ar, Coresh, J, Schmidt, R, Ferrucci, L, van Duijn, Cm, Borecki, I, Kardia, Sl, Liu, Y, Curhan, Gc, Rudan, I, Gyllensten, U, Wilson, Jf, Franke, A, Pramstaller, Pp, Rettig, R, Prokopenko, I, Witteman, J, Hayward, C, Ridker, Pm, Bochud, M, Heid, Im, Siscovick, D, Fox, C, Kao, Wl, Böger, Ca, Epidemiology, Erasmus School of Social and Behavioural Sciences, Clinical Genetics, Internal Medicine |
| المصدر: | Journal of the American Society of Nephrology, 24(12), 2105-17. American Society of Nephrology Journal of the American Society of Nephrology, 24(12), 2105-2117. American Society of Nephrology Journal of the American Society of Nephrology, 24(12), 2105-2117 Journal of the American Society of Nephrology; Vol 24 Europe PubMed Central Journal of the American Society of Nephrology (2013). doi:10.1681/ASN.2012100983. info:cnr-pdr/source/autori:Parsa A1, Fuchsberger C, Köttgen A, O'Seaghdha CM, Pattaro C, de Andrade M, Chasman DI, Teumer A, Endlich K, Olden M, Chen MH, Tin A, Kim YJ, Taliun D, Li M, Feitosa M, Gorski M, Yang Q, Hundertmark C, Foster MC, Glazer N, Isaacs A, Rao M, Smith AV, O'Connell JR, Struchalin M, Tanaka T, Li G, Hwang SJ, Atkinson EJ, Lohman K, Cornelis MC, Johansson A, Tönjes A, Dehghan A, Couraki V, Holliday EG, Sorice R, Kutalik Z, Lehtimäki T, Esko T, Deshmukh H, Ulivi S, Chu AY, Murgia F, Trompet S, Imboden M, Kollerits B, Pistis G, Harris TB, Launer LJ, Aspelund T, Eiriksdottir G, Mitchell BD, Boerwinkle E, Schmidt H, Hofer E, Hu F, Demirkan A, Oostra BA, Turner ST, Ding J, Andrews JS, Freedman BI, Giulianini F, Koenig W, Illig T, Döring A, Wichmann HE, Zgaga L, Zemunik T, Boban M, Minelli C, Wheeler HE, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Nöthlings U, Jacobs G, Biffar R, Ernst F, Homuth G, Kroemer HK, Nauck M, Stracke S, Völker U, Völzke H, Kovacs P, Stumvoll M, Mägi R, Hofman A, Uitterlinden AG, Rivadeneira F, Aulchenko YS, Polasek O, Hastie N, Vitart V, Helmer C, Wang JJ, Stengel B, Ruggiero D, Bergmann S, Kähönen M, Viikari J, Nikopensius T, Province M, Colhoun H, Doney A, Robino A, Krämer BK, Portas L, Ford I, Buckley BM, Adam M, Thun GA, Paulweber B, Haun M, Sala C, Mitchell P, Ciullo M, Vollenweider P, Raitakari O, Metspalu A, Palmer C, Gasparini P, Pirastu M, Jukema JW, Probst-Hensch NM, Kronenberg F, Toniolo D, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, van Duijn CM, Borecki I, Kardia SL, Liu Y, Curhan GC, Rudan I, Gyllensten U, Wilson JF, Franke A, Pramstaller PP, Rettig R, Prokopenko I, Witteman J, Hayward C, Ridker PM, Bochud M, Heid IM, Siscovick DS, Fox CS, Kao WL, Böger CA./titolo:Common variants in Mendelian kidney disease genes and their association with renal function./doi:10.1681%2FASN.2012100983./rivista:Journal of the American Society of Nephrology/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume Journal of the American Society of Nephrology (Online) (2013). doi:10.1681/ASN.2012100983 info:cnr-pdr/source/autori:Afshin Parsa, 1§ Christian Fuchsberger,2§ Anna Köttgen,3,4§ Conall M. O'Seaghdha,5,6§ Cristian Pattaro,7§ Mariza de Andrade,8§ Daniel I. Chasman,9,10,11 Alexander Teumer,12 Karlhans Endlich,13, Matthias Olden,5,14,15 Ming-Huei Chen,16,17 Adrienne Tin,4 Young J. Kim,29,125 Daniel Taliun,7 Man Li,4 Mary Feitosa,18 Mathias Gorski,19,20 Qiong Yang,21 Claudia Hundertmark,22 Meredith C. Foster,5 Nicole Glazer,23 Aaron Isaacs,24,25 Madhumathi Rao,26 Albert V. Smith,27,28 Jeffrey R. O'Connell,29 Maksim Struchalin,30 Toshiko Tanaka,31 Guo Li,32 Shih-Jen Hwang,5 Elizabeth J. Atkinson,8 Kurt Lohman,33 Marilyn C. Cornelis,34 Åsa Johansson,35 Anke Tönjes,36,37 Abbas Dehghan,38 Vincent Couraki39 Elizabeth G. Holliday,40,41 Rossella Sorice,42 Zoltan Kutalik,43,44 Terho Lehtimäki,45 Tõnu Esko,46,47 Harshal Deshmukh,48 Sheila Ulivi,49 Audrey Y. Chu,9,50 Federico Murgia,51 Stella Trompet,52 Medea Imboden,53,118 Barbara Kollerits,54 Giorgio Pistis,55 Tamara B. Harris,56 Lenore J. Launer,56 Thor Aspelund,27,28 Gudny Eiriksdottir,27 Braxton D. Mitchell,29 Eric Boerwinkle,57 Helena Schmidt,58 Edith Hofer,59 Frank Hu,34 Ayse Demirkan,24 Ben A. Oostra,24,126 Stephen T. Turner,60 Jingzhong Ding,61 Jeanette S. Andrews,62 Barry I. Freedman,63 Franco Giulianini,9,64 Wolfgang Koenig,65 Thomas Illig,116,117Angela Döring,66,20 H.-Erich Wichmann,20,67,68 Lina Zgaga,69 Tatijana Zemunik,70 Mladen Boban,70 Cosetta Minelli,7 Heather E. Wheeler,71,72 Wilmar Igl,35 Ghazal Zaboli,35 Sarah H Wild,69 Alan F Wright,73 Harry Campbell,69 David Ellinghaus,74 Ute Nöthlings,75,121,122 Gunnar Jacobs, 75,121 Reiner Biffar,76 Florian Ernst,12 Georg Homuth,12 Heyo K. Kroemer,77 Matthias Nauck,78 Sylvia Stracke,79 Uwe Völker,12 Henry Völzke,80 Peter Kovacs,81 Michael Stumvoll,36,37 Reedik Mägi,82,83 Albert Hofman,38 Andre G. Uitterlinden,84 Fernando Rivadeneira,84 Yurii S Aulchenko,38 Ozren Polasek,85 Nick Hastie,86 Veronique Vitart,86 Catherine Helmer,87,88 Jie Jin Wang,89,90 Bénédicte Stengel,91,124 Daniela Ruggiero,42 Sven Bergmann,44 Mika Kähönen,92 Jorma Viikari,93 Tiit Nikopensius,94 Michael Province,18 Helen Colhoun,48 Alex Doney,95 Antonietta Robino,49 Bernhard K. Krämer,96 Laura Portas,51 Ian Ford,97 Brendan M. Buckley,98 Martin Adam,53,118 Gian-Andri Thun,53,118 Bernhard Paulweber,99 Margot Haun,100 Cinzia Sala,55 Paul Mitchell,89 Marina Ciullo,42 Peter Vollenweider,101 Olli Raitakari,102 Andres Metspalu, 46,47 Colin Palmer,103 Paolo Gasparini,49 Mario Pirastu,51 J. Wouter Jukema,52,104,119,120 Nicole M. Probst-Hensch,53,118 Florian Kronenberg,54 Daniela Toniolo,55,128 Vilmundur Gudnason,27,28 Alan R. Shuldiner,29,105 Josef Coresh,4,106 Reinhold Schmidt,59 Luigi Ferrucci,31 Cornelia M. van Duijn,24,25,127 Ingrid Borecki,18 Sharon L.R. Kardia,107 Yongmei Liu,33 Gary C. Curhan,108 Igor Rudan,69 Ulf Gyllensten,35 James F. Wilson,69 Andre Franke,74 Peter P. Pramstaller,7 Rainer Rettig,109 Inga Prokopenko,82,123 Jacqueline Witteman,38 Caroline Hayward,86 Paul M Ridker,9,10,110 Murielle Bochud, 111 Iris M. Heid, 112,113 David S. Siscovick,32§ Caroline S. Fox,5,114§ W. Linda Kao,4,106§ Carsten A. Böger115§ §Writing%2FWorking group/titolo:Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function and CKD/doi:10.1681%2FASN.2012100983/rivista:Journal of the American Society of Nephrology (Online)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Kidney Disease, Kidney/physiology, Population, 030232 urology & nephrology, Genome-wide association study, Single-nucleotide polymorphism, Biology, Kidney, Renal Insufficiency, Chronic/genetics, Polymorphism, Single Nucleotide, White People, Chronic/genetics, 03 medical and health sciences, symbols.namesake, Databases, 0302 clinical medicine, Genetic, Gene Frequency, Clinical Research, Databases, Genetic, OMIM : Online Mendelian Inheritance in Man, Humans, Renal Insufficiency, Renal Insufficiency, Chronic, Polymorphism, European Continental Ancestry Group/genetics, education, Mendelian kidney disease, 030304 developmental biology, Genetics, 0303 health sciences, education.field_of_study, Genetic Variation, Mendelian Randomization Analysis, General Medicine, Single Nucleotide, ta3121, Kidney disease, renal function, genetic variants, 3. Good health, Minor allele frequency, Phenotype, Nephrology, Mendelian inheritance, symbols, Common disease-common variant, Genome-Wide Association Study |
| الوصف: | Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research. |
| اللغة: | English |
| تدمد: | 1046-6673 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::166a87e97e4338bd236b63248020929aTest https://doi.org/10.1681/asn.2012100983Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....166a87e97e4338bd236b63248020929a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10466673 |
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