Sökning: WFRF:(Viikari Jorma S.) > Integration of geno...
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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 |
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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 |
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700 | 1 | a Cornelis, Marilyn C.4 aut |
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700 | 1 | a Toenjes, Anke4 aut |
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700 | 1 | a Gieger, Christian4 aut |
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700 | 1 | a Wheeler, Heather E.4 aut |
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700 | 1 | a Zaboli, Ghazalu Uppsala universitet,Uppsala kliniska forskningscentrum (UCR)4 aut |
700 | 1 | a Wild, Sarah H.4 aut |
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700 | 1 | a Ruggiero, Daniela4 aut |
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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 |
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700 | 1 | a Ford, Ian4 aut |
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700 | 1 | a Adam, Martin4 aut |
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700 | 1 | a Paulweber, Bernhard4 aut |
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700 | 1 | a Sala, Cinzia4 aut |
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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 |
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700 | 1 | a Gasparini, Paolo4 aut |
700 | 1 | a Pirastu, Mario4 aut |
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700 | 1 | a Probst-Hensch, Nicole M.4 aut |
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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 |
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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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