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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 08548naa a2202149 4500 | |
| 001 | oai:DiVA.org:uu-215930 | |
| 003 | SwePub | |
| 008 | 140117s2013 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2159302 URI |
| 024 | 7 | a https://doi.org/10.1681/ASN.20121009832 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Parsa, Afshin4 aut |
| 245 | 1 0 | a Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function |
| 264 | 1 | c 2013 |
| 338 | a print2 rdacarrier | |
| 520 | a 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. | |
| 700 | 1 | a Fuchsberger, Christian4 aut |
| 700 | 1 | a Koettgen, Anna4 aut |
| 700 | 1 | a O'Seaghdha, Conall M.4 aut |
| 700 | 1 | a Pattaro, Cristian4 aut |
| 700 | 1 | a de Andrade, Mariza4 aut |
| 700 | 1 | a Chasman, Daniel I.4 aut |
| 700 | 1 | a Teumer, Alexander4 aut |
| 700 | 1 | a Endlich, Karlhans4 aut |
| 700 | 1 | a Olden, Matthias4 aut |
| 700 | 1 | a Chen, Ming-Huei4 aut |
| 700 | 1 | a Tin, Adrienne4 aut |
| 700 | 1 | a Kim, Young J.4 aut |
| 700 | 1 | a Taliun, Daniel4 aut |
| 700 | 1 | a Li, Man4 aut |
| 700 | 1 | a Feitosa, Mary4 aut |
| 700 | 1 | a Gorski, Mathias4 aut |
| 700 | 1 | a Yang, Qiong4 aut |
| 700 | 1 | a Hundertmark, Claudia4 aut |
| 700 | 1 | a Foster, Meredith C.4 aut |
| 700 | 1 | a Glazer, Nicole4 aut |
| 700 | 1 | a Isaacs, Aaron4 aut |
| 700 | 1 | a Rao, Madhumathi4 aut |
| 700 | 1 | a Smith, Albert V.4 aut |
| 700 | 1 | a O'Connell, Jeffrey R.4 aut |
| 700 | 1 | a Struchalin, Maksim4 aut |
| 700 | 1 | a Tanaka, Toshiko4 aut |
| 700 | 1 | a Li, Guo4 aut |
| 700 | 1 | a Hwang, Shih-Jen4 aut |
| 700 | 1 | a Atkinson, Elizabeth J.4 aut |
| 700 | 1 | a Lohman, Kurt4 aut |
| 700 | 1 | a Cornelis, Marilyn C.4 aut |
| 700 | 1 | a Johansson, Åsau Uppsala universitet,Genomik4 aut0 (Swepub:uu)asjoh108 |
| 700 | 1 | a Toenjes, Anke4 aut |
| 700 | 1 | a Dehghan, Abbas4 aut |
| 700 | 1 | a Couraki, Vincent4 aut |
| 700 | 1 | a Holliday, Elizabeth G.4 aut |
| 700 | 1 | a Sorice, Rossella4 aut |
| 700 | 1 | a Kutalik, Zoltan4 aut |
| 700 | 1 | a Lehtimaeki, Terho4 aut |
| 700 | 1 | a Esko, Tonu4 aut |
| 700 | 1 | a Deshmukh, Harshal4 aut |
| 700 | 1 | a Ulivi, Sheila4 aut |
| 700 | 1 | a Chu, Audrey Y.4 aut |
| 700 | 1 | a Murgia, Federico4 aut |
| 700 | 1 | a Trompet, Stella4 aut |
| 700 | 1 | a Imboden, Medea4 aut |
| 700 | 1 | a Kollerits, Barbara4 aut |
| 700 | 1 | a Pistis, Giorgio4 aut |
| 700 | 1 | a Harris, Tamara B.4 aut |
| 700 | 1 | a Launer, Lenore J.4 aut |
| 700 | 1 | a Aspelund, Thor4 aut |
| 700 | 1 | a Eiriksdottir, Gudny4 aut |
| 700 | 1 | a Mitchell, Braxton D.4 aut |
| 700 | 1 | a Boerwinkle, Eric4 aut |
| 700 | 1 | a Schmidt, Helena4 aut |
| 700 | 1 | a Hofer, Edith4 aut |
| 700 | 1 | a Hu, Frank4 aut |
| 700 | 1 | a Demirkan, Ayse4 aut |
| 700 | 1 | a Oostra, Ben A.4 aut |
| 700 | 1 | a Turner, Stephen T.4 aut |
| 700 | 1 | a Ding, Jingzhong4 aut |
| 700 | 1 | a Andrews, Jeanette S.4 aut |
| 700 | 1 | a Freedman, Barry I.4 aut |
| 700 | 1 | a Giulianini, Franco4 aut |
| 700 | 1 | a Koenig, Wolfgang4 aut |
| 700 | 1 | a Illig, Thomas4 aut |
| 700 | 1 | a Doering, Angela4 aut |
| 700 | 1 | a Wichmann, H. -Erich4 aut |
| 700 | 1 | a Zgaga, Lina4 aut |
| 700 | 1 | a Zemunik, Tatijana4 aut |
| 700 | 1 | a Boban, Mladen4 aut |
| 700 | 1 | a Minelli, Cosetta4 aut |
| 700 | 1 | a Wheeler, Heather E.4 aut |
| 700 | 1 | a Igl, Wilmaru Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut |
| 700 | 1 | a Zaboli, Ghazalu Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut |
| 700 | 1 | a Wild, Sarah H.4 aut |
| 700 | 1 | a Wright, Alan F.4 aut |
| 700 | 1 | a Campbell, Harry4 aut |
| 700 | 1 | a Ellinghaus, David4 aut |
| 700 | 1 | a Noethlings, Ute4 aut |
| 700 | 1 | a Jacobs, Gunnar4 aut |
| 700 | 1 | a Biffar, Reiner4 aut |
| 700 | 1 | a Ernst, Florian4 aut |
| 700 | 1 | a Homuth, Georg4 aut |
| 700 | 1 | a Kroemer, Heyo K.4 aut |
| 700 | 1 | a Nauck, Matthias4 aut |
| 700 | 1 | a Stracke, Sylvia4 aut |
| 700 | 1 | a Voelker, Uwe4 aut |
| 700 | 1 | a Voelzke, Henry4 aut |
| 700 | 1 | a Kovacs, Peter4 aut |
| 700 | 1 | a Stumvoll, Michael4 aut |
| 700 | 1 | a Maegi, Reedik4 aut |
| 700 | 1 | a Hofman, Albert4 aut |
| 700 | 1 | a Uitterlinden, Andre G.4 aut |
| 700 | 1 | a Rivadeneira, Fernando4 aut |
| 700 | 1 | a Aulchenko, Yurii S.4 aut |
| 700 | 1 | a Polasek, Ozren4 aut |
| 700 | 1 | a Hastie, Nick4 aut |
| 700 | 1 | a Vitart, Veronique4 aut |
| 700 | 1 | a Helmer, Catherine4 aut |
| 700 | 1 | a Wang, Jie Jin4 aut |
| 700 | 1 | a Stengel, Benedicte4 aut |
| 700 | 1 | a Ruggiero, Daniela4 aut |
| 700 | 1 | a Bergmann, Sven4 aut |
| 700 | 1 | a Kaehoenen, Mika4 aut |
| 700 | 1 | a Viikari, Jorma4 aut |
| 700 | 1 | a Nikopensius, Tiit4 aut |
| 700 | 1 | a Province, Michael4 aut |
| 700 | 1 | a Colhoun, Helen4 aut |
| 700 | 1 | a Doney, Alex4 aut |
| 700 | 1 | a Robino, Antonietta4 aut |
| 700 | 1 | a Kraemer, Bernhard K.4 aut |
| 700 | 1 | a Portas, Laura4 aut |
| 700 | 1 | a Ford, Ian4 aut |
| 700 | 1 | a Buckley, Brendan M.4 aut |
| 700 | 1 | a Adam, Martin4 aut |
| 700 | 1 | a Thun, Gian-Andri4 aut |
| 700 | 1 | a Paulweber, Bernhard4 aut |
| 700 | 1 | a Haun, Margot4 aut |
| 700 | 1 | a Sala, Cinzia4 aut |
| 700 | 1 | a Mitchell, Paul4 aut |
| 700 | 1 | a Ciullo, Marina4 aut |
| 700 | 1 | a Vollenweider, Peter4 aut |
| 700 | 1 | a Raitakari, Olli4 aut |
| 700 | 1 | a Metspalu, Andres4 aut |
| 700 | 1 | a Palmer, Colin4 aut |
| 700 | 1 | a Gasparini, Paolo4 aut |
| 700 | 1 | a Pirastu, Mario4 aut |
| 700 | 1 | a Jukema, J. Wouter4 aut |
| 700 | 1 | a Probst-Hensch, Nicole M.4 aut |
| 700 | 1 | a Kronenberg, Florian4 aut |
| 700 | 1 | a Toniolo, Daniela4 aut |
| 700 | 1 | a Gudnason, Vilmundur4 aut |
| 700 | 1 | a Shuldiner, Alan R.4 aut |
| 700 | 1 | a Coresh, Josef4 aut |
| 700 | 1 | a Schmidt, Reinhold4 aut |
| 700 | 1 | a Ferrucci, Luigi4 aut |
| 700 | 1 | a Van Duijn, Cornelia M.4 aut |
| 700 | 1 | a Borecki, Ingrid4 aut |
| 700 | 1 | a Kardia, Sharon L. R.4 aut |
| 700 | 1 | a Liu, Yongmei4 aut |
| 700 | 1 | a Curhan, Gary C.4 aut |
| 700 | 1 | a Rudan, Igor4 aut |
| 700 | 1 | a Gyllensten, Ulfu Uppsala universitet,Genomik4 aut0 (Swepub:uu)ulfgyll |
| 700 | 1 | a Wilson, James F.4 aut |
| 700 | 1 | a Franke, Andre4 aut |
| 700 | 1 | a Pramstaller, Peter P.4 aut |
| 700 | 1 | a Rettig, Rainer4 aut |
| 700 | 1 | a Prokopenko, Inga4 aut |
| 700 | 1 | a Witteman, Jacqueline4 aut |
| 700 | 1 | a Hayward, Caroline4 aut |
| 700 | 1 | a Ridker, Paul M.4 aut |
| 700 | 1 | a Bochud, Murielle4 aut |
| 700 | 1 | a Heid, Iris M.4 aut |
| 700 | 1 | a Siscovick, David S.4 aut |
| 700 | 1 | a Fox, Caroline S.4 aut |
| 700 | 1 | a Kao, W. Linda4 aut |
| 700 | 1 | a Boeger, Carsten A.4 aut |
| 710 | 2 | a Uppsala universitetb Genomik4 org |
| 773 | 0 | t Journal of the American Society of Nephrologyg 24:12, s. 2105-2117q 24:12<2105-2117x 1046-6673x 1533-3450 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-215930 |
| 856 | 4 8 | u https://doi.org/10.1681/ASN.2012100983 |
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