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16 results on '"Streiter, Gertraud"'

4. Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex Lipoprotein(a) KIV-2 VNTR

Author

Amstler, Stephan, primary, Streiter, Gertraud, additional, Pfurtscheller, Cathrin, additional, Forer, Lukas, additional, Di Maio, Silvia, additional, Weissensteiner, Hansi, additional, Paulweber, Bernhard, additional, Schoenherr, Sebastian, additional, Kronenberg, Florian, additional, and Coassin, Stefan, additional

Published
2024
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5. 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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6. When the genome bluffs: a tandem duplication event during generation of a novel Agmo knockout mouse model fools routine genotyping

Author

Sailer, Sabrina, Coassin, Stefan, Lackner, Katharina, Fischer, Caroline, McNeill, Eileen, Streiter, Gertraud, Kremser, Christian, Maglione, Manuel, Green, Catherine M., Moralli, Daniela, Moschen, Alexander R., Keller, Markus A., Golderer, Georg, Werner-Felmayer, Gabriele, Tegeder, Irmgard, Channon, Keith M., Davies, Benjamin, Werner, Ernst R., and Watschinger, Katrin

Published
2021
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9. The kringle IV type 2 domain variant 4925G>A causes the elusive association signal of the LPA pentanucleotide repeat

Author

Grüneis, Rebecca, primary, Weissensteiner, Hansi, additional, Lamina, Claudia, additional, Schönherr, Sebastian, additional, Forer, Lukas, additional, Di Maio, Silvia, additional, Streiter, Gertraud, additional, Peters, Annette, additional, Gieger, Christian, additional, Kronenberg, Florian, additional, and Coassin, Stefan, additional

Published
2022
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10. 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

11. Additional file 1 of When the genome bluffs: a tandem duplication event during generation of a novel Agmo knockout mouse model fools routine genotyping

Author

Sailer, Sabrina, Coassin, Stefan, Lackner, Katharina, Fischer, Caroline, McNeill, Eileen, Streiter, Gertraud, Kremser, Christian, Maglione, Manuel, Green, Catherine M., Moralli, Daniela, Moschen, Alexander R., Keller, Markus A., Golderer, Georg, Werner-Felmayer, Gabriele, Tegeder, Irmgard, Channon, Keith M., Davies, Benjamin, Werner, Ernst R., and Watschinger, Katrin

Subjects
Data_FILES
Abstract

Additional file 1. Additional figures and tables.

Published
2021
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14. 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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15. Investigation of anLPAKIV-2 nonsense mutation in 11,000 individuals: the importance of linkage disequilibrium structure inLPAgenetics

Author

Di Maio, Silvia, primary, Streiter, Gertraud, additional, Grüneis, Rebecca, additional, Lamina, Claudia, additional, Maglione, Manuel, additional, Öfner, Dietmar, additional, Thorand, Barbara, additional, Peters, Annette, additional, Eckardt, Kai-Uwe, additional, Köttgen, Anna, additional, Kronenberg, Florian, additional, and Coassin, Stefan, additional

Published
2019
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16. Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPAas a model

Author

Di Maio, Silvia, Zöscher, Peter, Weissensteiner, Hansi, Forer, Lukas, Schachtl-Riess, Johanna F., Amstler, Stephan, Streiter, Gertraud, Pfurtscheller, Cathrin, Paulweber, Bernhard, Kronenberg, Florian, Coassin, Stefan, and Schönherr, Sebastian

Abstract

Background: Variable number tandem repeats (VNTRs) are highly polymorphic DNA regions harboring many potentially disease-causing variants. However, VNTRs often appear unresolved (“dark”) in variation databases due to their repetitive nature. One particularly complex and medically relevant VNTR is the KIV-2 VNTR located in the cardiovascular disease gene LPAwhich encompasses up to 70% of the coding sequence. Results: Using the highly complex LPA gene as a model, we develop a computational approach to resolve intra-repeat variation in VNTRs from largely available short-read sequencing data. We apply the approach to six protein-coding VNTRs in 2504 samples from the 1000 Genomes Project and developed an optimized method for the LPAKIV-2 VNTR that discriminates the confounding KIV-2 subtypes upfront. This results in an F1-score improvement of up to 2.1-fold compared to previously published strategies. Finally, we analyze the LPA VNTR in > 199,000 UK Biobank samples, detecting > 700 KIV-2 mutations. This approach successfully reveals new strong Lp(a)-lowering effects for KIV-2 variants, with protective effect against coronary artery disease, and also validated previous findings based on tagging SNPs. Conclusions: Our approach paves the way for reliable variant detection in VNTRs at scale and we show that it is transferable to other dark regions, which will help unlock medical information hidden in VNTRs.

Published
2024
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