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Genomische und genetisch‐statistische Analyse zur Anfälligkeit für Dermatitis digitalis beim Holstein‐RindKopke, Grit 21 November 2019 (has links)
Die Dermatitis digitalis (DD) ist eine weltweit verbreitete infektiöse Klauenerkrankung mit negativem Einfluss auf das Wohlbefinden und die Leistung von Milchrindern. Durch die multifaktoriell bedingte Ätiologie und die unterschiedlichen klinischen Erscheinungsformen gestaltet sich die Therapie und Prophylaxe der Erkrankung als schwierig. Schätzungen für Erblichkeiten im moderaten Bereich und die Identifizierung von verschiedenen Kuhtypen hinsichtlich der Anfälligkeit für DD unterstreichen die mögliche Beteiligung von wirtseigenen genetischen Faktoren an der Entstehung der Erkrankung.
Unter Anwendung einer intensiven Phänotypisierung DD-betroffener Tiere wurden im Rahmen dieser Arbeit genetisch bedingte Hintergründe der Erkrankung untersucht, Erblichkeiten berechnet und eine Zuchtwertschätzung für DD entwickelt. Zudem war beabsichtigt über eine genomweite Assoziationsstudie (GWAS) relevante chromosomale Bereiche, Kandidatengene und funktionelle Gengruppen für Merkmale, die die Anfälligkeit und den Verlauf der Erkrankung beschreiben, zu identifizieren.
Die Ergebnisse der vorliegenden Arbeit liefern neue Erkenntnisse hinsichtlich einer züchterischen sowie genomischen Bearbeitung der DD des Holstein-Rindes. Dabei stellt die Nutzung von Phänotypen aus der wiederholten Einstufung von Kühen mittels M-Stadien-Klassifizierungssystem eine Innovation gegenüber der bisherigen Zuchtwertschätzung für Klauenerkrankungen dar. Insgesamt bestätigen die Ergebnisse eine bereits angenommene polygenetische Beeinflussung der DD beim Holstein-Rind. Eine gezielte züchterische Bearbeitung sollte flächendeckend und ergänzend zu allgemeinen Präventions- und therapeutischen Maßnahmen eingesetzt werden.
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Biodiversity of Arabian horses in SyriaAlmarzook, Saria 27 September 2018 (has links)
Das Hauptziel der Untersuchung der Artenvielfalt syrischer Araber war die Identifizierung der Populationsstruktur in einer Reihe von syrischen Araberpferden, die die drei Hauptstämme Saglawi, Kahlawi und Hamdani repräsentieren. Für die Studie wurden molekulare Marker der Sequenzdaten der 353 bp der hypervariablen Region der mitochondrialen D-Schleife, sowie der Daten von 12 Pferde-Mikrosatelliten und 38.671 genomweite SNPs verwendet. Kenntnisse über die Variabilität der Ausdauer sowie über morphologische Eigenschaften sind in Zuchtprogrammen von Vorteil. Wir haben in einer genomweiten Assoziationsstudie (GWAS) getestet, ob es einen kausalen Zusammenhang zwischen morphologischen Merkmalen und Variabilität der Ausdauer mit genetischen Polymorphismen gibt.Darüber hinaus haben wir Kandidatengene näher charakterisiert, welche zu dem komplexen Merkmal der Ausdauerleistung beitragen könnten. / The major objective of studying the biodiversity of Syrian Arabian horses was to identify the population structure in a set of Syrian Arabian horses representing the three major strains Saglawi, Kahlawi, and Hamdani. For the study, we used different genetic markers. The variability of endurance and morphological traits are beneficial in breeding programs. We tested genome-wide associations (GWAS) to find a causal relationship between morphological traits and genetic variants. Furthermore, we used the candidate gene approach to investigate the variability of genes contributing to endurance performance.
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A Genome-Wide Association Study Suggests Novel Loci Associated with a Schizophrenia-Related Brain-Based PhenotypeHass, Johanna, Walton, Esther, Kirsten, Holger, Liu, Jingyu, Priebe, Lutz, Wolf, Christiane, Karbalai, Nazanin, Gollub, Randy, White, Tonya, Rößner, Veit, Müller, Kathrin U., Paus, Tomas, Smolka, Michael N., Schumann, Gunter, Scholz, Markus, Cichon, Sven, Calhoun, Vince, Ehrlich, Stefan 22 January 2014 (has links) (PDF)
Patients with schizophrenia and their siblings typically show subtle changes of brain structures, such as a reduction of hippocampal volume. Hippocampal volume is heritable, may explain a variety of cognitive symptoms of schizophrenia and is thus considered an intermediate phenotype for this mental illness. The aim of our analyses was to identify single-nucleotide polymorphisms (SNP) related to hippocampal volume without making prior assumptions about possible candidate genes. In this study, we combined genetics, imaging and neuropsychological data obtained from the Mind Clinical Imaging Consortium study of schizophrenia (n = 328). A total of 743,591 SNPs were tested for association with hippocampal volume in a genome-wide association study. Gene expression profiles of human hippocampal tissue were investigated for gene regions of significantly associated SNPs. None of the genetic markers reached genome-wide significance. However, six highly correlated SNPs (rs4808611, rs35686037, rs12982178, rs1042178, rs10406920, rs8170) on chromosome 19p13.11, located within or in close proximity to the genes NR2F6, USHBP1, and BABAM1, as well as four SNPs in three other genomic regions (chromosome 1, 2 and 10) had p-values between 6.75×10−6 and 8.3×10−7. Using existing data of a very recently published GWAS of hippocampal volume and additional data of a multicentre study in a large cohort of adolescents of European ancestry, we found supporting evidence for our results. Furthermore, allelic differences in rs4808611 and rs8170 were highly associated with differential mRNA expression in the cis-acting region. Associations with memory functioning indicate a possible functional importance of the identified risk variants. Our findings provide new insights into the genetic architecture of a brain structure closely linked to schizophrenia. In silico replication, mRNA expression and cognitive data provide additional support for the relevance of our findings. Identification of causal variants and their functional effects may unveil yet unknown players in the neurodevelopment and the pathogenesis of neuropsychiatric disorders.
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The International Consortium on Lithium Genetics (ConLiGen): An Initiative by the NIMH and IGSLI to Study the Genetic Basis of Response to Lithium TreatmentSchulze, Thomas G., Alda, Martin, Adli, Mazda, Akula, Nirmala, Ardau, Raffaella, Bui, Elise T., Chillotti, Caterina, Cichon, Sven, Czerski, Piotr, Del Zompo, Maria, Detera-Wadleigh, Sevilla D., Grof, Paul, Gruber, Oliver, Hashimoto, Ryota, Hauser, Joanna, Hoban, Rebecca, Iwata, Nakao, Kassem, Layla, Kato, Tadafumi, Kittel-Schneider, Sarah, Kliwicki, Sebastian, Kelsoe, John R., Kusumi, Ichiro, Laje, Gonzalo, Leckband, Susan G., Manchia, Mirko, MacQueen, Glenda, Masui, Takuya, Ozaki, Norio, Perlis, Roy H., Pfennig, Andrea, Piccardi, Paola, Richardson, Sara, Rouleau, Guy, Reif, Andreas, Rybakowski, Janusz K., Sasse, Johanna, Schumacher, Johannes, Severino, Giovanni, Smoller, Jordan W., Squassina, Alessio, Turecki, Gustavo, Young, L. Trevor, Yoshikawa, Takeo, Bauer, Michael, McMahon, Francis J. 20 February 2014 (has links) (PDF)
For more than half a decade, lithium has been successfully used to treat bipolar disorder. Worldwide, it is considered the first-line mood stabilizer. Apart from its proven antimanic and prophylactic effects, considerable evidence also suggests an antisuicidal effect in affective disorders. Lithium is also effectively used to augment antidepressant drugs in the treatment of refractory major depressive episodes and prevent relapses in recurrent unipolar depression. In contrast to many psychiatric drugs, lithium has outlasted various pharmacotherapeutic ‘fashions’, and remains an indispensable element in contemporary psychopharmacology. Nevertheless, data from pharmacogenetic studies of lithium are comparatively sparse, and these studies are generally characterized by small sample sizes and varying definitions of response. Here, we present an international effort to elucidate the genetic underpinnings of lithium response in bipolar disorder. Following an initiative by the International Group for the Study of Lithium-Treated Patients (www.IGSLI.org) and the Unit on the Genetic Basis of Mood and Anxiety Disorders at the National Institute of Mental Health,lithium researchers from around the world have formed the Consortium on Lithium Genetics (www.ConLiGen.org) to establish the largest sample to date for genome-wide studies of lithium response in bipolar disorder, currently comprising more than 1,200 patients characterized for response to lithium treatment. A stringent phenotype definition of response is one of the hallmarks of this collaboration. ConLiGen invites all lithium researchers to join its efforts. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
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A Genome-Wide Association Study Suggests Novel Loci Associated with a Schizophrenia-Related Brain-Based PhenotypeHass, Johanna, Walton, Esther, Kirsten, Holger, Liu, Jingyu, Priebe, Lutz, Wolf, Christiane, Karbalai, Nazanin, Gollub, Randy, White, Tonya, Rößner, Veit, Müller, Kathrin U., Paus, Tomas, Smolka, Michael N., Schumann, Gunter, Scholz, Markus, Cichon, Sven, Calhoun, Vince, Ehrlich, Stefan 22 January 2014 (has links)
Patients with schizophrenia and their siblings typically show subtle changes of brain structures, such as a reduction of hippocampal volume. Hippocampal volume is heritable, may explain a variety of cognitive symptoms of schizophrenia and is thus considered an intermediate phenotype for this mental illness. The aim of our analyses was to identify single-nucleotide polymorphisms (SNP) related to hippocampal volume without making prior assumptions about possible candidate genes. In this study, we combined genetics, imaging and neuropsychological data obtained from the Mind Clinical Imaging Consortium study of schizophrenia (n = 328). A total of 743,591 SNPs were tested for association with hippocampal volume in a genome-wide association study. Gene expression profiles of human hippocampal tissue were investigated for gene regions of significantly associated SNPs. None of the genetic markers reached genome-wide significance. However, six highly correlated SNPs (rs4808611, rs35686037, rs12982178, rs1042178, rs10406920, rs8170) on chromosome 19p13.11, located within or in close proximity to the genes NR2F6, USHBP1, and BABAM1, as well as four SNPs in three other genomic regions (chromosome 1, 2 and 10) had p-values between 6.75×10−6 and 8.3×10−7. Using existing data of a very recently published GWAS of hippocampal volume and additional data of a multicentre study in a large cohort of adolescents of European ancestry, we found supporting evidence for our results. Furthermore, allelic differences in rs4808611 and rs8170 were highly associated with differential mRNA expression in the cis-acting region. Associations with memory functioning indicate a possible functional importance of the identified risk variants. Our findings provide new insights into the genetic architecture of a brain structure closely linked to schizophrenia. In silico replication, mRNA expression and cognitive data provide additional support for the relevance of our findings. Identification of causal variants and their functional effects may unveil yet unknown players in the neurodevelopment and the pathogenesis of neuropsychiatric disorders.
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The International Consortium on Lithium Genetics (ConLiGen): An Initiative by the NIMH and IGSLI to Study the Genetic Basis of Response to Lithium TreatmentSchulze, Thomas G., Alda, Martin, Adli, Mazda, Akula, Nirmala, Ardau, Raffaella, Bui, Elise T., Chillotti, Caterina, Cichon, Sven, Czerski, Piotr, Del Zompo, Maria, Detera-Wadleigh, Sevilla D., Grof, Paul, Gruber, Oliver, Hashimoto, Ryota, Hauser, Joanna, Hoban, Rebecca, Iwata, Nakao, Kassem, Layla, Kato, Tadafumi, Kittel-Schneider, Sarah, Kliwicki, Sebastian, Kelsoe, John R., Kusumi, Ichiro, Laje, Gonzalo, Leckband, Susan G., Manchia, Mirko, MacQueen, Glenda, Masui, Takuya, Ozaki, Norio, Perlis, Roy H., Pfennig, Andrea, Piccardi, Paola, Richardson, Sara, Rouleau, Guy, Reif, Andreas, Rybakowski, Janusz K., Sasse, Johanna, Schumacher, Johannes, Severino, Giovanni, Smoller, Jordan W., Squassina, Alessio, Turecki, Gustavo, Young, L. Trevor, Yoshikawa, Takeo, Bauer, Michael, McMahon, Francis J. January 2010 (has links)
For more than half a decade, lithium has been successfully used to treat bipolar disorder. Worldwide, it is considered the first-line mood stabilizer. Apart from its proven antimanic and prophylactic effects, considerable evidence also suggests an antisuicidal effect in affective disorders. Lithium is also effectively used to augment antidepressant drugs in the treatment of refractory major depressive episodes and prevent relapses in recurrent unipolar depression. In contrast to many psychiatric drugs, lithium has outlasted various pharmacotherapeutic ‘fashions’, and remains an indispensable element in contemporary psychopharmacology. Nevertheless, data from pharmacogenetic studies of lithium are comparatively sparse, and these studies are generally characterized by small sample sizes and varying definitions of response. Here, we present an international effort to elucidate the genetic underpinnings of lithium response in bipolar disorder. Following an initiative by the International Group for the Study of Lithium-Treated Patients (www.IGSLI.org) and the Unit on the Genetic Basis of Mood and Anxiety Disorders at the National Institute of Mental Health,lithium researchers from around the world have formed the Consortium on Lithium Genetics (www.ConLiGen.org) to establish the largest sample to date for genome-wide studies of lithium response in bipolar disorder, currently comprising more than 1,200 patients characterized for response to lithium treatment. A stringent phenotype definition of response is one of the hallmarks of this collaboration. ConLiGen invites all lithium researchers to join its efforts. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
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