Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

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Fältnamn	Indikatorer	Metadata
000		09467naa a2202233 4500
001		oai:DiVA.org:uu-191025
003		SwePub
008		130109s2012 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1910252 URI
024	7	a https://doi.org/10.1093/hmg/dds3692 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 Chasman, Daniel I.4 aut
245	1 0	a Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function
264		c 2012-09-08
264	1	b Oxford University Press (OUP),c 2012
338		a print2 rdacarrier
520		a In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated glomerular filtration rate (eGFR), a measure of kidney function, we developed a strategy for integrating prior biological knowledge into the existing GWAS data for eGFR from the CKDGen Consortium. Our strategy focuses on single nucleotide polymorphism (SNPs) in genes that are connected by functional evidence, determined by literature mining and gene ontology (GO) hierarchies, to genes near previously validated eGFR associations. It then requires association thresholds consistent with multiple testing, and finally evaluates novel candidates by independent replication. Among the samples of European ancestry, we identified a genome-wide significant SNP in FBXL20 (P 5.6 10(9)) in meta-analysis of all available data, and additional SNPs at the INHBC, LRP2, PLEKHA1, SLC3A2 and SLC7A6 genes meeting multiple-testing corrected significance for replication and overall P-values of 4.5 10(4)2.2 10(7). Neither the novel PLEKHA1 nor FBXL20 associations, both further supported by association with eGFR among African Americans and with transcript abundance, would have been implicated by eGFR candidate gene approaches. LRP2, encoding the megalin receptor, was identified through connection with the previously known eGFR gene DAB2 and extends understanding of the megalin system in kidney function. These findings highlight integration of existing genome-wide association data with independent biological knowledge to uncover novel candidate eGFR associations, including candidates lacking known connections to kidney-specific pathways. The strategy may also be applicable to other clinical phenotypes, although more testing will be needed to assess its potential for discovery in general.
700	1	a Fuchsberger, Christian4 aut
700	1	a Pattaro, Cristian4 aut
700	1	a Teumer, Alexander4 aut
700	1	a Boeger, Carsten A.4 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 Taliun, Daniel4 aut
700	1	a Li, Man4 aut
700	1	a Gao, Xiaoyi4 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 O'Seaghdha, Conall M.4 aut
700	1	a Glazer, Nicole4 aut
700	1	a Isaacs, Aaron4 aut
700	1	a Liu, Ching-Ti4 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 Johnson, Andrew D.4 aut
700	1	a Gierman, Hinco J.4 aut
700	1	a Feitosa, Mary F.4 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,Uppsala kliniska forskningscentrum (UCR),Genomik4 aut0 (Swepub:uu)asjoh108
700	1	a Toenjes, Anke4 aut
700	1	a Dehghan, Abbas4 aut
700	1	a Lambert, Jean-Charles4 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 Coassin, Stefan4 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 Cavalieri, Margherita4 aut
700	1	a Rao, Madhumathi4 aut
700	1	a Hu, Frank4 aut
700	1	a Demirkan, Ayse4 aut
700	1	a Oostra, Ben A.4 aut
700	1	a de Andrade, Mariza4 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 Meisinger, Christa4 aut
700	1	a Gieger, Christian4 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,Uppsala kliniska forskningscentrum (UCR)4 aut
700	1	a Zaboli, Ghazalu Uppsala universitet,Uppsala kliniska forskningscentrum (UCR)4 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 Kahonen, Mika4 aut
700	1	a Viikari, Jorma4 aut
700	1	a Nikopensius, Tiit4 aut
700	1	a Province, Michael4 aut
700	1	a Ketkar, Shamika4 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 Kim, Stuart K.4 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 Siscovick, David S.4 aut
700	1	a van Duijn, Cornelia M.4 aut
700	1	a Borecki, Ingrid B.4 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 Parsa, Afshin4 aut
700	1	a Bochud, Murielle4 aut
700	1	a Heid, Iris M.4 aut
700	1	a Kao, W. H. Linda4 aut
700	1	a Fox, Caroline S.4 aut
700	1	a Koettgen, Anna4 aut
710	2	a Uppsala universitetb Uppsala kliniska forskningscentrum (UCR)4 org
773	0	t Human Molecular Geneticsd : Oxford University Press (OUP)g 21:24, s. 5329-5343q 21:24<5329-5343x 0964-6906x 1460-2083
856	4	u https://europepmc.org/articles/pmc3607468?pdf=render
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-191025
856	4 8	u https://doi.org/10.1093/hmg/dds369

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Av författaren/redakt...: Chasman, Daniel ...; Fuchsberger, Chr ...; Pattaro, Cristia ...; Teumer, Alexande ...; Boeger, Carsten ...; Endlich, Karlhan ...; visa fler...; Olden, Matthias; Chen, Ming-Huei; Tin, Adrienne; Taliun, Daniel; Li, Man; Gao, Xiaoyi; Gorski, Mathias; Yang, Qiong; Hundertmark, Cla ...; Foster, Meredith ...; O'Seaghdha, Cona ...; Glazer, Nicole; Isaacs, Aaron; Liu, Ching-Ti; Smith, Albert V.; O'Connell, Jeffr ...; Struchalin, Maks ...; Tanaka, Toshiko; Li, Guo; Johnson, Andrew ...; Gierman, Hinco J ...; Feitosa, Mary F.; Hwang, Shih-Jen; Atkinson, Elizab ...; Lohman, Kurt; Cornelis, Marily ...; Johansson, Åsa; Toenjes, Anke; Dehghan, Abbas; Lambert, Jean-Ch ...; Holliday, Elizab ...; Sorice, Rossella; Kutalik, Zoltan; Lehtimaeki, Terh ...; Esko, Tonu; Deshmukh, Harsha ...; Ulivi, Sheila; Chu, Audrey Y.; Murgia, Federico; Trompet, Stella; Imboden, Medea; Coassin, Stefan; Pistis, Giorgio; Harris, Tamara B ...; Launer, Lenore J ...; Aspelund, Thor; Eiriksdottir, Gu ...; Mitchell, Braxto ...; Boerwinkle, Eric; Schmidt, Helena; Cavalieri, Margh ...; Rao, Madhumathi; Hu, Frank; Demirkan, Ayse; Oostra, Ben A.; de Andrade, Mari ...; Turner, Stephen ...; Ding, Jingzhong; Andrews, Jeanett ...; Freedman, Barry ...; Giulianini, Fran ...; Koenig, Wolfgang; Illig, Thomas; Meisinger, Chris ...; Gieger, Christia ...; Zgaga, Lina; Zemunik, Tatijan ...; Boban, Mladen; Minelli, Cosetta; Wheeler, Heather ...; Igl, Wilmar; Zaboli, Ghazal; Wild, Sarah H.; Wright, Alan F.; Campbell, Harry; Ellinghaus, Davi ...; Noethlings, Ute; Jacobs, Gunnar; Biffar, Reiner; Ernst, Florian; Homuth, Georg; Kroemer, Heyo K.; Nauck, Matthias; Stracke, Sylvia; Voelker, Uwe; Voelzke, Henry; Kovacs, Peter; Stumvoll, Michae ...; Maegi, Reedik; Hofman, Albert; Uitterlinden, An ...; Rivadeneira, Fer ...; Aulchenko, Yurii ...; Polasek, Ozren; Hastie, Nick; Vitart, Veroniqu ...; Helmer, Catherin ...; Wang, Jie Jin; Stengel, Benedic ...; Ruggiero, Daniel ...; Bergmann, Sven; Kahonen, Mika; Viikari, Jorma; Nikopensius, Tii ...; Province, Michae ...; Ketkar, Shamika; Colhoun, Helen; Doney, Alex; Robino, Antoniet ...; Kraemer, Bernhar ...; Portas, Laura; Ford, Ian; Buckley, Brendan ...; Adam, Martin; Thun, Gian-Andri; Paulweber, Bernh ...; Haun, Margot; Sala, Cinzia; Mitchell, Paul; Ciullo, Marina; Kim, Stuart K.; Vollenweider, Pe ...; Raitakari, Olli; Metspalu, Andres; Palmer, Colin; Gasparini, Paolo; Pirastu, Mario; Jukema, J. Woute ...; Probst-Hensch, N ...; Kronenberg, Flor ...; Toniolo, Daniela; Gudnason, Vilmun ...; Shuldiner, Alan ...; Coresh, Josef; Schmidt, Reinhol ...; Ferrucci, Luigi; Siscovick, David ...; van Duijn, Corne ...; Borecki, Ingrid ...; Kardia, Sharon L ...; Liu, Yongmei; Curhan, Gary C.; Rudan, Igor; Gyllensten, Ulf; Wilson, James F.; Franke, Andre; Pramstaller, Pet ...; Rettig, Rainer; Prokopenko, Inga; Witteman, Jacque ...; Hayward, Carolin ...; Ridker, Paul M.; Parsa, Afshin; Bochud, Murielle; Heid, Iris M.; Kao, W. H. Linda; Fox, Caroline S.; Koettgen, Anna; visa färre...

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