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9 results on '"Utermann, Gerd"'

3. Lack of association of rs3798220 with small apolipoprotein(a) isoforms and high lipoprotein(a) levels in East and Southeast Asians

Author

Khalifa, Mahmoud, Noureen, Asma, Ertelthalner, Kathrin, Bandegi, Ahmad Reza, Delport, Rhena, Firdaus, Wance J.J., Geethanjali, Finney S., Luthra, Kalpana, Makemaharn, Orawan, Pang, Richard W.C., Salem, Abdel-Halim, Sasaki, Jun, Schiefenhoevel, Wulf, Lingenhel, Arno, Kronenberg, Florian, Utermann, Gerd, and Schmidt, Konrad

Published
2015
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4. A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region

Author

Coassin, Stefan, primary, Schönherr, Sebastian, additional, Weissensteiner, Hansi, additional, Erhart, Gertraud, additional, Forer, Lukas, additional, Losso, Jamie Lee, additional, Lamina, Claudia, additional, Haun, Margot, additional, Utermann, Gerd, additional, Paulweber, Bernhard, additional, Specht, Günther, additional, and Kronenberg, Florian, additional

Published
2019
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5. Significant differentiation in the apolipoprotein(a)/lipoprotein(a) trait between chimpanzees from Western and Central Africa

Author

Noureen, Asma, primary, Ronke, Claudius, additional, Khalifa, Mahmoud, additional, Halbwax, Michel, additional, Fischer, Anne, additional, André, Claudine, additional, Atencia, Rebeca, additional, Garriga, Rosa, additional, Mugisha, Lawrence, additional, Ceglarek, Uta, additional, Thiery, Joachim, additional, Utermann, Gerd, additional, and Schmidt, Konrad, additional

Published
2017
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6. A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction

Author

Coassin, Stefan, primary, Erhart, Gertraud, additional, Weissensteiner, Hansi, additional, Eca Guimarães de Araújo, Mariana, additional, Lamina, Claudia, additional, Schönherr, Sebastian, additional, Forer, Lukas, additional, Haun, Margot, additional, Losso, Jamie Lee, additional, Köttgen, Anna, additional, Schmidt, Konrad, additional, Utermann, Gerd, additional, Peters, Annette, additional, Gieger, Christian, additional, Strauch, Konstantin, additional, Finkenstedt, Armin, additional, Bale, Reto, additional, Zoller, Heinz, additional, Paulweber, Bernhard, additional, Eckardt, Kai-Uwe, additional, Hüttenhofer, Alexander, additional, Huber, Lukas A., additional, and Kronenberg, Florian, additional

Published
2017
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8. A comprehensive map of single-base polymorphisms in the hypervariable LPAkringle IV type 2 copy number variation region[S]

Author

Coassin, Stefan, Schönherr, Sebastian, Weissensteiner, Hansi, Erhart, Gertraud, Forer, Lukas, Losso, Jamie Lee, Lamina, Claudia, Haun, Margot, Utermann, Gerd, Paulweber, Bernhard, Specht, Günther, and Kronenberg, Florian

Abstract

Lipoprotein (a) [Lp(a)] concentrations are among the strongest genetic risk factors for cardiovascular disease and present pronounced interethnic and interindividual differences. Approximately 90#x0025; of Lp(a) variance is controlled by the LPAgene, which contains a 5.6-kb-large copy number variation [kringle IV type 2 (KIV-2) repeat] that generates >40 protein isoforms. Variants within the KIV-2 region are not called in common sequencing projects, leaving up to 70#x0025; of the LPAcoding region currently unaddressed. To completely assess the variability in LPA, we developed a sequencing strategy for this region and report here the first map of genetic variation in the KIV-2 region, a comprehensively evaluated ultradeep sequencing protocol, and an easy-to-use variant analysis pipeline. We sequenced 123 Central-European individuals and reanalyzed public data of 2,504 individuals from 26 populations. We found 14 different loss-of-function and splice-site mutations, as well as >100, partially even common, missense variants. Some coding variants were frequent in one population but absent in others. This provides novel candidates to explain the large ethnic and individual differences in Lp(a) concentrations. Importantly, our approach and pipeline are also applicable to other similar copy number variable regions, allowing access to regions that are not captured by common genome sequencing.

Published
2019
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