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1. Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations and Protect Against Coronary Artery Disease

Author

Eckardt, Kai-Uwe, Meiselbach, Heike, Schneider, Markus P., Schiffer, Mario, Prokosch, Hans-Ulrich, Bärthlein, Barbara, Beck, Andreas, Reis, André, Ekici, Arif B., Becker, Susanne, Becker-Grosspitsch, Dinah, Alberth-Schmidt, Ulrike, Hausknecht, Birgit, Weigel, Anke, Walz, Gerd, Köttgen, Anna, Schultheiß, Ulla T., Kotsis, Fruzsina, Meder, Simone, Mitsch, Erna, Reinhard, Ursula, Floege, Jürgen, Saritas, Turgay, Schaeffner, Elke, Baid-Agrawal, Seema, Theisen, Kerstin, Haller, Hermann, Menne, Jan, Zeier, Martin, Sommerer, Claudia, Theilinger, Johanna, Wolf, Gunter, Busch, Martin, Paul, Rainer, Sitter, Thomas, Wanner, Christoph, Krane, Vera, Börner-Klein, Antje, Bauer, Britta, Kronenberg, Florian, Raschenberger, Julia, Kollerits, Barbara, Forer, Lukas, Schönherr, Sebastian, Weissensteiner, Hansi, Oefner, Peter, Gronwald, Wolfram, Schmid, Matthias, Nadal, Jennifer, Schachtl-Riess, Johanna F., Kheirkhah, Azin, Grüneis, Rebecca, Di Maio, Silvia, Schoenherr, Sebastian, Streiter, Gertraud, Losso, Jamie Lee, Paulweber, Bernhard, Lamina, Claudia, and Coassin, Stefan

Published
2021
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2. Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations and Protect Against Coronary Artery Disease

Author

Schachtl-Riess, Johanna F., Kheirkhah, Azin, Grüneis, Rebecca, Di Maio, Silvia, Schoenherr, Sebastian, Streiter, Gertraud, Losso, Jamie Lee, Paulweber, Bernhard, Eckardt, Kai-Uwe, Köttgen, Anna, Lamina, Claudia, Kronenberg, Florian, Coassin, Stefan, For The GCKD Investigators, Meiselbach, Heike, Schneider, Markus P., Schiffer, Mario, Prokosch, Hans-Ulrich, Bärthlein, Barbara, Beck, Andreas, Reis, André, Ekici, Arif B., Becker, Susanne, Becker-Grosspitsch, Dinah, Alberth-Schmidt, Ulrike, Hausknecht, Birgit, Weigel, Anke, Walz, Gerd, Schultheiß, Ulla T., Kotsis, Fruzsina, Meder, Simone, Mitsch, Erna, Reinhard, Ursula, Floege, Jürgen, Saritas, Turgay, Schaeffner, Elke, Baid-Agrawal, Seema, Theisen, Kerstin, Haller, Hermann, Menne, Jan, Zeier, Martin, Sommerer, Claudia, Theilinger, Johanna, Wolf, Gunter, Busch, Martin, Paul, Rainer, Sitter, Thomas, Wanner, Christoph, Krane, Vera, Börner-Klein, Antje, Bauer, Britta, Raschenberger, Julia, Kollerits, Barbara, Forer, Lukas, Schönherr, Sebastian, Weissensteiner, Hansi, Oefner, Peter J., Gronwald, Wolfram, Schmid, Matthias, and Nadal, Jennifer

Subjects
medicine.medical_specialty, 610 Medizin, Coronary Artery Disease, Mendelian randomization, cardiovascular disease, cohort study, copy number variation, genetic variability, lipoprotein(a), Coronary artery disease, Kringles, Internal medicine, Medicine, Humans, Copy-number variation, Genetic variability, Prospective Studies, Risk factor, ddc:610, biology, business.industry, Genetic Variation, Lipoprotein(a), medicine.disease, biology.protein, Cardiology, lipids (amino acids, peptides, and proteins), biological phenomena, cell phenomena, and immunity, Cardiology and Cardiovascular Medicine, business, Lipoprotein, Cohort study
Abstract

Background: Lipoprotein(a) (Lp(a)) concentrations are a major independent risk factor for coronary artery disease (CAD) and are mainly determined by variation in LPA. Up to 70% of the LPA coding sequence is located in the hypervariable kringle IV type 2 (KIV-2) region. It is hardly accessible by conventional technologies, but may contain functional variants. Objectives: This study sought to investigate the new, very frequent splicing variant KIV-2 4733G>A on Lp(a) and CAD. Methods: We genotyped 4733G>A in the GCKD (German Chronic Kidney Disease) study (n = 4,673) by allele-specific polymerase chain reaction, performed minigene assays, identified proxy single nucleotide polymorphisms and used them to characterize its effect on CAD by survival analysis in UK Biobank (n = 440,234). Frequencies in ethnic groups were assessed in the 1000 Genomes Project. Results: The 4733G>A variant (38.2% carrier frequency) was found in most isoform sizes. It reduces allelic expression without abolishing protein production, lowers Lp(a) by 13.6 mg/dL (95% CI: 12.5-14.7; P < 0.0001) and is the strongest variance-explaining factor after the smaller isoform. Splicing of minigenes was modified. Compound heterozygosity (4.6% of the population) for 4733G>A and 4925G>A, another KIV-2 splicing mutation, reduces Lp(a) by 31.8 mg/dL and most importantly narrows the interquartile range by 9-fold (from 42.1 to 4.6 mg/dL) when compared to the wild type. In UK Biobank 4733G>A alone and compound heterozygosity with 4925G>A reduced HR for CAD by 9% (95% CI: 7%-11%) and 12% (95% CI: 7%-16%) (both P < 0.001). Frequencies in ethnicities differ notably. Conclusions: Functional variants in the previously inaccessible LPA KIV-2 region cooperate in determining Lp(a) variance and CAD risk. Even a moderate but lifelong genetic Lp(a) reduction translates to a noticeable CAD risk reduction.

Published
2021

4. Profiling of Mitochondrial DNA Heteroplasmy in a Prospective Oral Squamous Cell Carcinoma Study

Author

Fendt, Liane, primary, Fazzini, Federica, additional, Weissensteiner, Hansi, additional, Bruckmoser, Emanuel, additional, Schönherr, Sebastian, additional, Schäfer, Georg, additional, Losso, Jamie Lee, additional, Streiter, Gertraud A., additional, Lamina, Claudia, additional, Rasse, Michael, additional, Klocker, Helmut, additional, Kofler, Barbara, additional, Kloss-Brandstätter, Anita, additional, Huck, Christian W., additional, Kronenberg, Florian, additional, and Laimer, Johannes, additional

Published
2020
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5. 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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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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7. 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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