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  1. Article ; Online: “Beef Jerky in a Ball Gown”

    Dexl Carmen / Horn Katrin

    Open Cultural Studies, Vol 1, Iss 1, Pp 442-

    The Camp Excesses of Titus Andromedon in Unbreakable Kimmy Schmidt

    2017  Volume 453

    Abstract: In this essay, we look at Titus Andromedon from the Netflix-sitcom Unbreakable Kimmy Schmidt (2014-) as a singular phenomenon in contemporary TV: a black queen whose use of camp distances him from stereotypes, but connects him with audiences. Titus thus ... ...

    Abstract In this essay, we look at Titus Andromedon from the Netflix-sitcom Unbreakable Kimmy Schmidt (2014-) as a singular phenomenon in contemporary TV: a black queen whose use of camp distances him from stereotypes, but connects him with audiences. Titus thus not only adds to a more diverse representation of black experience on TV but also interrogates prevailing TV tropes. Titus thus presents a crucial (and critical) addition to the contemporary TV landscape, to which several TV critics in leading media outlets have recently attested a turning point in the representation-both in quantity and quality-of black characters on big and small screens. Titus breaks with historical traditions of African American representation in the sitcom, both in so-called “black sitcoms” with a majority of African American characters and in white sitcoms which have featured people of color as sidekicks. In addition, Titus picks up on gay sidekicks and their relation to female lead characters, whose dynamics are interrogated through Titus’s growing agency as a character in his own right. Titus expands on these novelties in meaningful ways, as he wholeheartedly embraces his queer identity and furthermore offers a running commentary on other characters’ “white nonsense,” thereby clearly refusing the assimilationist tendencies typical for much of “Post-Cosby”-sitcom black representation. This article therefore claims that Titus’ character relies on camp in his balancing act between comic relief, affective centering, and critical distance, and illustrates this by analyzing the specific techniques of Titus’ critical engagement with stereotypical representation of gay and black TV characters.
    Keywords unbreakable kimmy schmidt ; camp ; sitcom ; queer ; black ; representation ; Social sciences (General) ; H1-99
    Subject code 820
    Language English
    Publishing date 2017-12-01T00:00:00Z
    Publisher De Gruyter
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: First genome-wide association study of 99 body measures derived from 3-dimensional body scans.

    Kühnapfel, Andreas / Ahnert, Peter / Horn, Katrin / Kirsten, Holger / Loeffler, Markus / Scholz, Markus

    Genes & diseases

    2021  Volume 9, Issue 3, Page(s) 777–788

    Abstract: Body height, body mass index, hip and waist circumference are important risk factors or outcome variables in clinical and epidemiological research with complex underlying genetics. However, these classical anthropometric traits represent only a very ... ...

    Abstract Body height, body mass index, hip and waist circumference are important risk factors or outcome variables in clinical and epidemiological research with complex underlying genetics. However, these classical anthropometric traits represent only a very limited view on the human body and other traits with potentially higher functional specificity are not yet studied to a larger extent. Participants of LIFE-Adult were assessed by three-dimensional body scanner VITUS XXL determining 99 high-quality anthropometric traits in parallel. Genotyping was performed by Axiom Genome-Wide CEU 1 Array Plate microarray technology and imputation was done using 1000 Genomes phase 3 reference panel. Combined phenotype and genetic information are available for a total of 7,562 participants. Largest heritabilities were estimated for height traits (maximum heritability with h
    Language English
    Publishing date 2021-02-16
    Publishing country China
    Document type Journal Article
    ZDB-ID 2821806-1
    ISSN 2352-3042 ; 2352-3042
    ISSN (online) 2352-3042
    ISSN 2352-3042
    DOI 10.1016/j.gendis.2021.02.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Genetic Regulation of Cytokine Response in Patients with Acute Community-Acquired Pneumonia.

    Kühnapfel, Andreas / Horn, Katrin / Klotz, Ulrike / Kiehntopf, Michael / Rosolowski, Maciej / Loeffler, Markus / Ahnert, Peter / Suttorp, Norbert / Witzenrath, Martin / Scholz, Markus

    Genes

    2022  Volume 13, Issue 1

    Abstract: Background: Community-acquired pneumonia (CAP) is an acute disease condition with a high risk of rapid deteriorations. We analysed the influence of genetics on cytokine regulation to obtain a better understanding of patient's heterogeneity.: Methods: ...

    Abstract Background: Community-acquired pneumonia (CAP) is an acute disease condition with a high risk of rapid deteriorations. We analysed the influence of genetics on cytokine regulation to obtain a better understanding of patient's heterogeneity.
    Methods: For up to
    Results: 102 SNPs from 14 loci showed genome-wide significant associations with five of the cytokines. The most interesting associations were found at 6p21.1 for VEGF (
    Conclusion: This is the first context-specific genetic association study of blood cytokine concentrations in CAP patients revealing numerous biologically plausible candidate genes. Two of the loci were also associated with atherosclerosis with probable common or consecutive pathomechanisms.
    MeSH term(s) Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biomarkers/metabolism ; Case-Control Studies ; Community-Acquired Infections/etiology ; Community-Acquired Infections/metabolism ; Community-Acquired Infections/pathology ; Cytokines/genetics ; Cytokines/metabolism ; Female ; Follow-Up Studies ; Gene Expression Regulation ; Genome-Wide Association Study ; Humans ; Longitudinal Studies ; Male ; Middle Aged ; Pneumonia/etiology ; Pneumonia/metabolism ; Pneumonia/pathology ; Prognosis ; Prospective Studies ; Young Adult
    Chemical Substances Biomarkers ; Cytokines
    Language English
    Publishing date 2022-01-06
    Publishing country Switzerland
    Document type Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13010111
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Genetic Regulation of Cytokine Response in Patients with Acute Community-Acquired Pneumonia

    Kühnapfel, Andreas / Horn, Katrin / Klotz, Ulrike / Kiehntopf, Michael / Rosolowski, Maciej / Loeffler, Markus / Ahnert, Peter / Suttorp, Norbert / Witzenrath, Martin / Scholz, Markus

    Genes. 2022 Jan. 06, v. 13, no. 1

    2022  

    Abstract: Background: Community-acquired pneumonia (CAP) is an acute disease condition with a high risk of rapid deteriorations. We analysed the influence of genetics on cytokine regulation to obtain a better understanding of patient’s heterogeneity. Methods: For ... ...

    Abstract Background: Community-acquired pneumonia (CAP) is an acute disease condition with a high risk of rapid deteriorations. We analysed the influence of genetics on cytokine regulation to obtain a better understanding of patient’s heterogeneity. Methods: For up to N = 389 genotyped participants of the PROGRESS study of hospitalised CAP patients, we performed a genome-wide association study of ten cytokines IL-1β, IL-6, IL-8, IL-10, IL-12, MCP-1 (MCAF), MIP-1α (CCL3), VEGF, VCAM-1, and ICAM-1. Consecutive secondary analyses were performed to identify independent hits and corresponding causal variants. Results: 102 SNPs from 14 loci showed genome-wide significant associations with five of the cytokines. The most interesting associations were found at 6p21.1 for VEGF (p = 1.58 × 10⁻²⁰), at 17q21.32 (p = 1.51 × 10⁻⁹) and at 10p12.1 (p = 2.76 × 10⁻⁹) for IL-1β, at 10p13 for MIP-1α (CCL3) (p = 2.28 × 10⁻⁹), and at 9q34.12 for IL-10 (p = 4.52 × 10⁻⁸). Functionally plausible genes could be assigned to the majority of loci including genes involved in cytokine secretion, granulocyte function, and cilial kinetics. Conclusion: This is the first context-specific genetic association study of blood cytokine concentrations in CAP patients revealing numerous biologically plausible candidate genes. Two of the loci were also associated with atherosclerosis with probable common or consecutive pathomechanisms.
    Keywords acute course ; atherosclerosis ; blood ; genome-wide association study ; genotyping ; intercellular adhesion molecule-1 ; interleukin-10 ; interleukin-12 ; interleukin-6 ; interleukin-8 ; patients ; pneumonia ; risk ; secretion ; vascular cell adhesion molecules
    Language English
    Dates of publication 2022-0106
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13010111
    Database NAL-Catalogue (AGRICOLA)

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  5. Article: Automated detection of genetic relatedness from fundus photographs using Siamese Neural Networks.

    Bhandari, Sakshi Manoj / Singh, Praveer / Arun, Nishanth / Sekimitsu, Sayuri / Raghu, Vineet / Rauscher, Franziska G / Elze, Tobias / Horn, Katrin / Kirsten, Toralf / Scholz, Markus / Segrè, Ayellet V / Wiggs, Janey L / Kalpathy-Cramer, Jayashree / Zebardast, Nazlee

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: Heritability of common eye diseases and ocular traits are relatively high. Here, we develop an automated algorithm to detect genetic relatedness from color fundus photographs (FPs). We estimated the degree of shared ancestry amongst individuals in the UK ...

    Abstract Heritability of common eye diseases and ocular traits are relatively high. Here, we develop an automated algorithm to detect genetic relatedness from color fundus photographs (FPs). We estimated the degree of shared ancestry amongst individuals in the UK Biobank using KING software. A convolutional Siamese neural network-based algorithm was trained to output a measure of genetic relatedness using 7224 pairs (3612 related and 3612 unrelated) of FPs. The model achieved high performance for prediction of genetic relatedness; when computed Euclidean distances were used to determine probability of relatedness, the area under the receiver operating characteristic curve (AUROC) for identifying related FPs reached 0.926. We performed external validation of our model using FPs from the LIFE-Adult study and achieved an AUROC of 0.69. An occlusion map indicates that the optic nerve and its surrounding area may be the most predictive of genetic relatedness. We demonstrate that genetic relatedness can be captured from FP features. This approach may be used to uncover novel biomarkers for common ocular diseases.
    Language English
    Publishing date 2023-08-23
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.08.16.23294183
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Sex-Specific Causal Relations between Steroid Hormones and Obesity-A Mendelian Randomization Study.

    Pott, Janne / Horn, Katrin / Zeidler, Robert / Kirsten, Holger / Ahnert, Peter / Kratzsch, Jürgen / Loeffler, Markus / Isermann, Berend / Ceglarek, Uta / Scholz, Markus

    Metabolites

    2021  Volume 11, Issue 11

    Abstract: Steroid hormones act as important regulators of physiological processes including gene expression. They provide possible mechanistic explanations of observed sex-dimorphisms in obesity and coronary artery disease (CAD). Here, we aim to unravel causal ... ...

    Abstract Steroid hormones act as important regulators of physiological processes including gene expression. They provide possible mechanistic explanations of observed sex-dimorphisms in obesity and coronary artery disease (CAD). Here, we aim to unravel causal relationships between steroid hormones, obesity, and CAD in a sex-specific manner. In genome-wide meta-analyses of four steroid hormone levels and one hormone ratio, we identified 17 genome-wide significant loci of which 11 were novel. Among loci, seven were female-specific, four male-specific, and one was sex-related (stronger effects in females). As one of the loci was the human leukocyte antigen (HLA) region, we analyzed HLA allele counts and found four HLA subtypes linked to 17-OH-progesterone (17-OHP), including HLA-B*14*02. Using Mendelian randomization approaches with four additional hormones as exposure, we detected causal effects of dehydroepiandrosterone sulfate (DHEA-S) and 17-OHP on body mass index (BMI) and waist-to-hip ratio (WHR). The DHEA-S effect was stronger in males. Additionally, we observed the causal effects of testosterone, estradiol, and their ratio on WHR. By mediation analysis, we found a direct sex-unspecific effect of 17-OHP on CAD while the other four hormone effects on CAD were mediated by BMI or WHR. In conclusion, we identified the sex-specific causal networks of steroid hormones, obesity-related traits, and CAD.
    Language English
    Publishing date 2021-10-28
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662251-8
    ISSN 2218-1989
    ISSN 2218-1989
    DOI 10.3390/metabo11110738
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Genome-wide association and transcriptome analysis suggests total serum ghrelin to be linked with GFRAL.

    Wittekind, Dirk Alexander / Scholz, Markus / Kratzsch, Jürgen / Löffler, Markus / Horn, Katrin / Kirsten, Holger / Witte, Veronica / Villringer, Arno / Kluge, Michael

    European journal of endocrinology

    2021  Volume 184, Issue 6, Page(s) 847–856

    Abstract: Objective: Ghrelin is an orexigenic peptide hormone involved in the regulation of energy homeostasis, food intake and glucose metabolism. Serum levels increase anticipating a meal and fall afterwards. Underlying genetic mechanisms of the ghrelin ... ...

    Abstract Objective: Ghrelin is an orexigenic peptide hormone involved in the regulation of energy homeostasis, food intake and glucose metabolism. Serum levels increase anticipating a meal and fall afterwards. Underlying genetic mechanisms of the ghrelin secretion are unknown.
    Methods: Total serum ghrelin was measured in 1501 subjects selected from the population-based LIFE-ADULT-sample after an overnight fast. A genome-wide association study (GWAS) was performed. Gene-based expression association analyses (transcriptome-wide association study (TWAS)) are statistical tests associating genetically predicted expression to a certain trait and were done using MetaXcan.
    Results: In the GWAS, three loci reached genome-wide significance: the WW-domain containing the oxidoreductase-gene (WWOX; P = 1.80E-10) on chromosome 16q23.3-24.1 (SNP: rs76823993); the contactin-associated protein-like 2 gene (CNTNAP2; P = 9.0E-9) on chromosome 7q35-q36 (SNP: rs192092592) and the ghrelin And obestatin prepropeptide gene (GHRL; P = 2.72E-8) on chromosome 3p25.3 (SNP: rs143729751). In the TWAS, the three genes where the expression was strongest associated with serum ghrelin levels was the ribosomal protein L36 (RPL36; P = 1.3E-06, FDR = 0.011, positively correlated), AP1B1 (P = 1.1E-5, FDR = 0.048, negatively correlated) and the GDNF family receptor alpha like (GFRAL), receptor of the anorexigenic growth differentiation factor-15 (GDF15), (P = 1.8E-05, FDR = 0.15, also negatively correlated).
    Conclusions: The three genome-wide significant genetic loci from the GWA and the genes identified in the TWA are functionally plausible and should initiate further research.
    MeSH term(s) Adolescent ; Adult ; Female ; Gene Expression Profiling ; Genome-Wide Association Study ; Ghrelin/blood ; Glial Cell Line-Derived Neurotrophic Factor Receptors/genetics ; Humans ; Male ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci ; Transcriptome ; WW Domain-Containing Oxidoreductase/genetics ; Young Adult
    Chemical Substances CNTNAP2 protein, human ; Ghrelin ; Glial Cell Line-Derived Neurotrophic Factor Receptors ; Membrane Proteins ; Nerve Tissue Proteins ; WW Domain-Containing Oxidoreductase (EC 1.1.1.-)
    Language English
    Publishing date 2021-05-10
    Publishing country England
    Document type Journal Article
    ZDB-ID 1183856-5
    ISSN 1479-683X ; 0804-4643
    ISSN (online) 1479-683X
    ISSN 0804-4643
    DOI 10.1530/EJE-20-1220
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health.

    Zekavat, Seyedeh Maryam / Jorshery, Saman Doroodgar / Rauscher, Franziska G / Horn, Katrin / Sekimitsu, Sayuri / Koyama, Satoshi / Nguyen, Trang T / Costanzo, Maria C / Jang, Dongkeun / Burtt, Noël P / Kühnapfel, Andreas / Shweikh, Yusrah / Ye, Yixuan / Raghu, Vineet / Zhao, Hongyu / Ghassemi, Marzyeh / Elze, Tobias / Segrè, Ayellet V / Wiggs, Janey L /
    Del Priore, Lucian / Scholz, Markus / Wang, Jay C / Natarajan, Pradeep / Zebardast, Nazlee

    Science translational medicine

    2024  Volume 16, Issue 731, Page(s) eadg4517

    Abstract: The human retina is a multilayered tissue that offers a unique window into systemic health. Optical coherence tomography (OCT) is widely used in eye care and allows the noninvasive, rapid capture of retinal anatomy in exquisite detail. We conducted ... ...

    Abstract The human retina is a multilayered tissue that offers a unique window into systemic health. Optical coherence tomography (OCT) is widely used in eye care and allows the noninvasive, rapid capture of retinal anatomy in exquisite detail. We conducted genotypic and phenotypic analyses of retinal layer thicknesses using macular OCT images from 44,823 UK Biobank participants. We performed OCT layer cross-phenotype association analyses (OCT-XWAS), associating retinal thicknesses with 1866 incident conditions (median 10-year follow-up) and 88 quantitative traits and blood biomarkers. We performed genome-wide association studies (GWASs), identifying inherited genetic markers that influence retinal layer thicknesses and replicated our associations among the LIFE-Adult Study (
    MeSH term(s) Adult ; Humans ; Genome-Wide Association Study ; Tomography, Optical Coherence ; Face ; Retina/diagnostic imaging ; Cardiovascular Diseases
    Language English
    Publishing date 2024-01-24
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2518854-9
    ISSN 1946-6242 ; 1946-6234
    ISSN (online) 1946-6242
    ISSN 1946-6234
    DOI 10.1126/scitranslmed.adg4517
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Conference proceedings: Erste genomweite Assoziationsstudie von 99 Körpermaßen aus 3D-Körper-Scans

    Kühnapfel, Andreas / Ahnert, Peter / Horn, Katrin / Kirsten, Holger / Löffler, Markus / Scholz, Markus

    2021  , Page(s) Abstr. 104

    Event/congress 66. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e. V. (GMDS), 12. Jahreskongress der Technologie- und Methodenplattform für die vernetzte medizinische Forschung e.V. (TMF); sine loco [digital]; Deutsche Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie; 2021
    Keywords Medizin, Gesundheit ; GWAS ; Bodyscanner ; Heritabilität ; Genetische Korrelation
    Publishing date 2021-09-24
    Publisher German Medical Science GMS Publishing House; Düsseldorf
    Document type Conference proceedings
    DOI 10.3205/21gmds113
    Database German Medical Science

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  10. Article: Insights into human health from phenome- and genome-wide analyses of UK Biobank retinal optical coherence tomography phenotypes.

    Zekavat, Seyedeh Maryam / Jorshery, Saman Doroodgar / Shweikh, Yusrah / Horn, Katrin / Rauscher, Franziska G / Sekimitsu, Sayuri / Kayoma, Satoshi / Ye, Yixuan / Raghu, Vineet / Zhao, Hongyu / Ghassemi, Marzyeh / Elze, Tobias / Segrè, Ayellet V / Wiggs, Janey L / Scholz, Markus / Priore, Lucian Del / Wang, Jay C / Natarajan, Pradeep / Zebardast, Nazlee

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: The human retina is a complex multi-layered tissue which offers a unique window into systemic health and disease. Optical coherence tomography (OCT) is widely used in eye care and allows the non-invasive, rapid capture of retinal measurements in ... ...

    Abstract The human retina is a complex multi-layered tissue which offers a unique window into systemic health and disease. Optical coherence tomography (OCT) is widely used in eye care and allows the non-invasive, rapid capture of retinal measurements in exquisite detail. We conducted genome- and phenome-wide analyses of retinal layer thicknesses using macular OCT images from 44,823 UK Biobank participants. We performed phenome-wide association analyses, associating retinal thicknesses with 1,866 incident ICD-based conditions (median 10-year follow-up) and 88 quantitative traits and blood biomarkers. We performed genome-wide association analyses, identifying inherited genetic markers which influence the retina, and replicated our associations among 6,313 individuals from the LIFE-Adult Study. And lastly, we performed comparative association of phenome- and genome- wide associations to identify putative causal links between systemic conditions, retinal layer thicknesses, and ocular disease. Independent associations with incident mortality were detected for photoreceptor thinning and ganglion cell complex thinning. Significant phenotypic associations were detected between retinal layer thinning and ocular, neuropsychiatric, cardiometabolic and pulmonary conditions. Genome-wide association of retinal layer thicknesses yielded 259 loci. Consistency between epidemiologic and genetic associations suggested putative causal links between thinning of the retinal nerve fiber layer with glaucoma, photoreceptor segment with AMD, as well as poor cardiometabolic and pulmonary function with PS thinning, among other findings. In conclusion, retinal layer thinning predicts risk of future ocular and systemic disease. Furthermore, systemic cardio-metabolic-pulmonary conditions promote retinal thinning. Retinal imaging biomarkers, integrated into electronic health records, may inform risk prediction and potential therapeutic strategies.
    Language English
    Publishing date 2023-05-17
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.05.16.23290063
    Database MEDical Literature Analysis and Retrieval System OnLINE

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