Sökning: onr:"swepub:oai:DiVA.org:uu-171674" > Genome-Wide Associa...
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000 | 05738naa a2200925 4500 | |
001 | oai:DiVA.org:uu-171674 | |
003 | SwePub | |
008 | 120325s2012 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1716742 URI |
024 | 7 | a https://doi.org/10.1371/journal.pgen.10024902 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 Demirkan, Ayse4 aut |
245 | 1 0 | a Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations |
264 | c 2012-02-16 | |
264 | 1 | b Public Library of Science (PLoS),c 2012 |
338 | a electronic2 rdacarrier | |
520 | a Phospho- and sphingolipids are crucial cellular and intracellular compounds. These lipids are required for active transport, a number of enzymatic processes, membrane formation, and cell signalling. Disruption of their metabolism leads to several diseases, with diverse neurological, psychiatric, and metabolic consequences. A large number of phospholipid and sphingolipid species can be detected and measured in human plasma. We conducted a meta-analysis of five European family-based genome-wide association studies (N = 4034) on plasma levels of 24 sphingomyelins (SPM), 9 ceramides (CER), 57 phosphatidylcholines (PC), 20 lysophosphatidylcholines (LPC), 27 phosphatidylethanolamines (PE), and 16 PE-based plasmalogens (PLPE), as well as their proportions in each major class. This effort yielded 25 genome-wide significant loci for phospholipids (smallest P-value = 9.88 x 10(-204)) and 10 loci for sphingolipids (smallest P-value = 3.10 x 10(-57)). After a correction for multiple comparisons (P-value, 2.2 x 10(-9)), we observed four novel loci significantly associated with phospholipids (PAQR9, AGPAT1, PKD2L1, PDXDC1) and two with sphingolipids (PLD2 and APOE) explaining up to 3.1% of the variance. Further analysis of the top findings with respect to within class molar proportions uncovered three additional loci for phospholipids (PNLIPRP2, PCDH20, and ABDH3) suggesting their involvement in either fatty acid elongation/saturation processes or fatty acid specific turnover mechanisms. Among those, 14 loci (KCNH7, AGPAT1, PNLIPRP2, SYT9, FADS1-2-3, DLG2, APOA1, ELOVL2, CDK17, LIPC, PDXDC1, PLD2, LASS4, and APOE) mapped into the glycerophospholipid and 12 loci (ILKAP, ITGA9, AGPAT1, FADS1-2-3, APOA1, PCDH20, LIPC, PDXDC1, SGPP1, APOE, LASS4, and PLD2) to the sphingolipid pathways. In large meta-analyses, associations between FADS1-2-3 and carotid intima media thickness, AGPAT1 and type 2 diabetes, and APOA1 and coronary artery disease were observed. In conclusion, our study identified nine novel phospho- and sphingolipid loci, substantially increasing our knowledge of the genetic basis for these traits. | |
700 | 1 | a van Duijn, Cornelia M.4 aut |
700 | 1 | a Ugocsai, Peter4 aut |
700 | 1 | a Isaacs, Aaron4 aut |
700 | 1 | a Pramstaller, Peter P.4 aut |
700 | 1 | a Liebisch, Gerhard4 aut |
700 | 1 | a Wilson, James F.4 aut |
700 | 1 | a Johansson, Åsau Uppsala universitet,Genomik4 aut0 (Swepub:uu)asjoh108 |
700 | 1 | a Rudan, Igor4 aut |
700 | 1 | a Aulchenko, Yurii S.4 aut |
700 | 1 | a Kirichenko, Anatoly V.4 aut |
700 | 1 | a Janssens, A. Cecile J. W.4 aut |
700 | 1 | a Jansen, Ritsert C.4 aut |
700 | 1 | a Gnewuch, Carsten4 aut |
700 | 1 | a Domingues, Francisco S.4 aut |
700 | 1 | a Pattaro, Cristian4 aut |
700 | 1 | a Wild, Sarah H.4 aut |
700 | 1 | a Jonasson, Ingeru Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)ingejona |
700 | 1 | a Polasek, Ozren4 aut |
700 | 1 | a Zorkoltseva, Irina V.4 aut |
700 | 1 | a Hofman, Albert4 aut |
700 | 1 | a Karssen, Lennart C.4 aut |
700 | 1 | a Struchalin, Maksim4 aut |
700 | 1 | a Floyd, James4 aut |
700 | 1 | a Igl, Wilmar4 aut |
700 | 1 | a Biloglav, Zrinka4 aut |
700 | 1 | a Broer, Linda4 aut |
700 | 1 | a Pfeufer, Arne4 aut |
700 | 1 | a Pichler, Irene4 aut |
700 | 1 | a Campbell, Susan4 aut |
700 | 1 | a Zaboli, Ghazalu Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut |
700 | 1 | a Kolcic, Ivana4 aut |
700 | 1 | a Rivadeneira, Fernando4 aut |
700 | 1 | a Huffman, Jennifer4 aut |
700 | 1 | a Hastie, Nicholas D.4 aut |
700 | 1 | a Uitterlinden, Andre4 aut |
700 | 1 | a Franke, Lude4 aut |
700 | 1 | a Franklin, Christopher S.4 aut |
700 | 1 | a Vitart, Veronique4 aut |
700 | 1 | a Nelson, Christopher P.4 aut |
700 | 1 | a Preuss, Michael4 aut |
700 | 1 | a Bis, Joshua C.4 aut |
700 | 1 | a O'Donnell, Christopher J.4 aut |
700 | 1 | a Franceschini, Nora4 aut |
700 | 1 | a Witteman, Jacqueline C. M.4 aut |
700 | 1 | a Axenovich, Tatiana4 aut |
700 | 1 | a Oostra, Ben A.4 aut |
700 | 1 | a Meitinger, Thomas4 aut |
700 | 1 | a Hicks, Andrew A.4 aut |
700 | 1 | a Hayward, Caroline4 aut |
700 | 1 | a Wright, Alan F.4 aut |
700 | 1 | a Gyllensten, Ulfu Uppsala universitet,Genomik4 aut0 (Swepub:uu)ulfgyll |
700 | 1 | a Campbell, Harry4 aut |
700 | 1 | a Schmitz, Gerd4 aut |
710 | 2 | a Uppsala universitetb Genomik4 org |
773 | 0 | t PLoS Geneticsd : Public Library of Science (PLoS)g 8:2, s. e1002490-q 8:2<e1002490-x 1553-7390x 1553-7404 |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:512140/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002490&type=printable |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-171674 |
856 | 4 8 | u https://doi.org/10.1371/journal.pgen.1002490 |
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