194 results on '"Marenholz, Ingo"'
Search Results
2. European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
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Budu-Aggrey, Ashley, Kilanowski, Anna, Sobczyk, Maria K., Shringarpure, Suyash S., Mitchell, Ruth, Reis, Kadri, Reigo, Anu, Mägi, Reedik, Nelis, Mari, Tanaka, Nao, Brumpton, Ben M., Thomas, Laurent F., Sole-Navais, Pol, Flatley, Christopher, Espuela-Ortiz, Antonio, Herrera-Luis, Esther, Lominchar, Jesus V. T., Bork-Jensen, Jette, Marenholz, Ingo, Arnau-Soler, Aleix, Jeong, Ayoung, Fawcett, Katherine A., Baurecht, Hansjorg, Rodriguez, Elke, Alves, Alexessander Couto, Kumar, Ashish, Sleiman, Patrick M., Chang, Xiao, Medina-Gomez, Carolina, Hu, Chen, Xu, Cheng-jian, Qi, Cancan, El-Heis, Sarah, Titcombe, Philip, Antoun, Elie, Fadista, João, Wang, Carol A., Thiering, Elisabeth, Wu, Baojun, Kress, Sara, Kothalawala, Dilini M., Kadalayil, Latha, Duan, Jiasong, Zhang, Hongmei, Hadebe, Sabelo, Hoffmann, Thomas, Jorgenson, Eric, Choquet, Hélène, Risch, Neil, Njølstad, Pål, Andreassen, Ole A., Johansson, Stefan, Almqvist, Catarina, Gong, Tong, Ullemar, Vilhelmina, Karlsson, Robert, Magnusson, Patrik K. E., Szwajda, Agnieszka, Burchard, Esteban G., Thyssen, Jacob P., Hansen, Torben, Kårhus, Line L., Dantoft, Thomas M., Jeanrenaud, Alexander C.S.N., Ghauri, Ahla, Arnold, Andreas, Homuth, Georg, Lau, Susanne, Nöthen, Markus M., Hübner, Norbert, Imboden, Medea, Visconti, Alessia, Falchi, Mario, Bataille, Veronique, Hysi, Pirro, Ballardini, Natalia, Boomsma, Dorret I., Hottenga, Jouke J., Müller-Nurasyid, Martina, Ahluwalia, Tarunveer S., Stokholm, Jakob, Chawes, Bo, Schoos, Ann-Marie M., Esplugues, Ana, Bustamante, Mariona, Raby, Benjamin, Arshad, Syed, German, Chris, Esko, Tõnu, Milani, Lili A., Metspalu, Andres, Terao, Chikashi, Abuabara, Katrina, Løset, Mari, Hveem, Kristian, Jacobsson, Bo, Pino-Yanes, Maria, Strachan, David P., Grarup, Niels, Linneberg, Allan, Lee, Young-Ae, Probst-Hensch, Nicole, Weidinger, Stephan, Jarvelin, Marjo-Riitta, Melén, Erik, Hakonarson, Hakon, Irvine, Alan D., Jarvis, Deborah, Nijsten, Tamar, Duijts, Liesbeth, Vonk, Judith M., Koppelmann, Gerard H., Godfrey, Keith M., Barton, Sheila J., Feenstra, Bjarke, Pennell, Craig E., Sly, Peter D., Holt, Patrick G., Williams, L. Keoki, Bisgaard, Hans, Bønnelykke, Klaus, Curtin, John, Simpson, Angela, Murray, Clare, Schikowski, Tamara, Bunyavanich, Supinda, Weiss, Scott T., Holloway, John W., Min, Josine L., Brown, Sara J., Standl, Marie, and Paternoster, Lavinia
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- 2023
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3. Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
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Ferreira, Manuel AR, Vonk, Judith M, Baurecht, Hansjörg, Marenholz, Ingo, Tian, Chao, Hoffman, Joshua D, Helmer, Quinta, Tillander, Annika, Ullemar, Vilhelmina, Lu, Yi, Grosche, Sarah, Rüschendorf, Franz, Granell, Raquel, Brumpton, Ben M, Fritsche, Lars G, Bhatta, Laxmi, Gabrielsen, Maiken E, Nielsen, Jonas B, Zhou, Wei, Hveem, Kristian, Langhammer, Arnulf, Holmen, Oddgeir L, Løset, Mari, Abecasis, Gonçalo R, Willer, Cristen J, Emami, Nima C, Cavazos, Taylor B, Witte, John S, Szwajda, Agnieszka, 23andMe Research Team, collaborators of the SHARE study, Hinds, David A, Hübner, Norbert, Weidinger, Stephan, Magnusson, Patrik Ke, Jorgenson, Eric, Karlsson, Robert, Paternoster, Lavinia, Boomsma, Dorret I, Almqvist, Catarina, Lee, Young-Ae, and Koppelman, Gerard H
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23andMe Research Team ,collaborators of the SHARE study ,Humans ,Asthma ,Eczema ,Age of Onset ,Polymorphism ,Single Nucleotide ,Adolescent ,Adult ,Aged ,Middle Aged ,Child ,Female ,Rhinitis ,Allergic ,Seasonal ,Male ,Genome-Wide Association Study ,Genetic Loci ,Polymorphism ,Single Nucleotide ,Rhinitis ,Allergic ,Seasonal ,Developmental Biology ,Genetics - Abstract
Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema. Self-reported age-of-onset information was available for 117,130 genotyped individuals of European ancestry from the UK Biobank study. For each individual, we identified the earliest age at which asthma, hay fever and/or eczema was first diagnosed and performed a genome-wide association study (GWAS) of this combined age-of-onset phenotype. We identified 50 variants with a significant independent association (P
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- 2020
4. Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology
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Ferreira, Manuel A, Vonk, Judith M, Baurecht, Hansjörg, Marenholz, Ingo, Tian, Chao, Hoffman, Joshua D, Helmer, Quinta, Tillander, Annika, Ullemar, Vilhelmina, van Dongen, Jenny, Lu, Yi, Rüschendorf, Franz, Esparza-Gordillo, Jorge, Medway, Chris W, Mountjoy, Edward, Burrows, Kimberley, Hummel, Oliver, Grosche, Sarah, Brumpton, Ben M, Witte, John S, Hottenga, Jouke-Jan, Willemsen, Gonneke, Zheng, Jie, Rodríguez, Elke, Hotze, Melanie, Franke, Andre, Revez, Joana A, Beesley, Jonathan, Matheson, Melanie C, Dharmage, Shyamali C, Bain, Lisa M, Fritsche, Lars G, Gabrielsen, Maiken E, Balliu, Brunilda, Nielsen, Jonas B, Zhou, Wei, Hveem, Kristian, Langhammer, Arnulf, Holmen, Oddgeir L, Løset, Mari, Abecasis, Gonçalo R, Willer, Cristen J, Arnold, Andreas, Homuth, Georg, Schmidt, Carsten O, Thompson, Philip J, Martin, Nicholas G, Duffy, David L, Novak, Natalija, Schulz, Holger, Karrasch, Stefan, Gieger, Christian, Strauch, Konstantin, Melles, Ronald B, Hinds, David A, Hübner, Norbert, Weidinger, Stephan, Magnusson, Patrik KE, Jansen, Rick, Jorgenson, Eric, Lee, Young-Ae, Boomsma, Dorret I, Almqvist, Catarina, Karlsson, Robert, Koppelman, Gerard H, and Paternoster, Lavinia
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Biological Sciences ,Genetics ,Emerging Infectious Diseases ,Lung ,Prevention ,Asthma ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Inflammatory and immune system ,Good Health and Well Being ,Eczema ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Hypersensitivity ,Phenotype ,Polymorphism ,Single Nucleotide ,Rhinitis ,Allergic ,Seasonal ,Risk Factors ,23andMe Research Team ,AAGC collaborators ,BIOS consortium ,LifeLines Cohort Study ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Asthma, hay fever (or allergic rhinitis) and eczema (or atopic dermatitis) often coexist in the same individuals, partly because of a shared genetic origin. To identify shared risk variants, we performed a genome-wide association study (GWAS; n = 360,838) of a broad allergic disease phenotype that considers the presence of any one of these three diseases. We identified 136 independent risk variants (P < 3 × 10-8), including 73 not previously reported, which implicate 132 nearby genes in allergic disease pathophysiology. Disease-specific effects were detected for only six variants, confirming that most represent shared risk factors. Tissue-specific heritability and biological process enrichment analyses suggest that shared risk variants influence lymphocyte-mediated immunity. Six target genes provide an opportunity for drug repositioning, while for 36 genes CpG methylation was found to influence transcription independently of genetic effects. Asthma, hay fever and eczema partly coexist because they share many genetic risk variants that dysregulate the expression of immune-related genes.
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- 2017
5. Protein-coding variants contribute to the risk of atopic dermatitis and skin-specific gene expression
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Mucha, Sören, Baurecht, Hansjörg, Novak, Natalija, Rodríguez, Elke, Bej, Saptarshi, Mayr, Gabriele, Emmert, Hila, Stölzl, Dora, Gerdes, Sascha, Jung, Eun Suk, Degenhardt, Frauke, Hübenthal, Matthias, Ellinghaus, Eva, Kässens, Jan Christian, Wienbrandt, Lars, Lieb, Wolfgang, Müller-Nurasyid, Martina, Hotze, Melanie, Dand, Nick, Grosche, Sarah, Marenholz, Ingo, Arnold, Andreas, Homuth, Georg, Schmidt, Carsten O., Wehkamp, Ulrike, Nöthen, Markus M., Hoffmann, Per, Paternoster, Lavinia, Standl, Marie, Bønnelykke, Klaus, Ahluwalia, Tarunveer S., Bisgaard, Hans, Peters, Annette, Gieger, Christian, Waldenberger, Melanie, Schulz, Holger, Strauch, Konstantin, Werfel, Thomas, Lee, Young-Ae, Wolfien, Markus, Rosenstiel, Philip, Wolkenhauer, Olaf, Schreiber, Stefan, Franke, Andre, Weidinger, Stephan, and Ellinghaus, David
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- 2020
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6. Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
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Grosche, Sarah, Marenholz, Ingo, Esparza-Gordillo, Jorge, Arnau-Soler, Aleix, Pairo-Castineira, Erola, Rüschendorf, Franz, Ahluwalia, Tarunveer S., Almqvist, Catarina, Arnold, Andreas, Baurecht, Hansjörg, Bisgaard, Hans, Bønnelykke, Klaus, Brown, Sara J., Bustamante, Mariona, Curtin, John A., Custovic, Adnan, Dharmage, Shyamali C., Esplugues, Ana, Falchi, Mario, Fernandez-Orth, Dietmar, Ferreira, Manuel A. R., Franke, Andre, Gerdes, Sascha, Gieger, Christian, Hakonarson, Hakon, Holt, Patrick G., Homuth, Georg, Hubner, Norbert, Hysi, Pirro G., Jarvelin, Marjo-Riitta, Karlsson, Robert, Koppelman, Gerard H., Lau, Susanne, Lutz, Manuel, Magnusson, Patrik K. E., Marks, Guy B., Müller-Nurasyid, Martina, Nöthen, Markus M., Paternoster, Lavinia, Pennell, Craig E., Peters, Annette, Rawlik, Konrad, Robertson, Colin F., Rodriguez, Elke, Sebert, Sylvain, Simpson, Angela, Sleiman, Patrick M. A., Standl, Marie, Stölzl, Dora, Strauch, Konstantin, Szwajda, Agnieszka, Tenesa, Albert, Thompson, Philip J., Ullemar, Vilhelmina, Visconti, Alessia, Vonk, Judith M., Wang, Carol A., Weidinger, Stephan, Wielscher, Matthias, Worth, Catherine L., Xu, Chen-Jian, and Lee, Young-Ae
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- 2021
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7. Eleven loci with new reproducible genetic associations with allergic disease risk
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Ferreira, Manuel A.R., Vonk, Judith M., Baurecht, Hansjörg, Marenholz, Ingo, Tian, Chao, Hoffman, Joshua D., Helmer, Quinta, Tillander, Annika, Ullemar, Vilhelmina, Lu, Yi, Rüschendorf, Franz, Hinds, David A., Hübner, Norbert, Weidinger, Stephan, Magnusson, Patrik K.E., Jorgenson, Eric, Lee, Young-Ae, Boomsma, Dorret I., Karlsson, Robert, Almqvist, Catarina, Koppelman, Gerard H., and Paternoster, Lavinia
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- 2019
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8. New insights from genetic studies of eczema
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Marenholz, Ingo, primary, Arnau-Soler, Aleix, additional, Rosillo-Salazar, Oscar Daniel, additional, and Lee, Young-Ae, additional
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- 2023
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9. Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks
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Demenais, Florence, Margaritte-Jeannin, Patricia, Barnes, Kathleen C., Cookson, William O. C., Altmüller, Janine, Ang, Wei, Barr, R. Graham, Beaty, Terri H., Becker, Allan B., Beilby, John, Bisgaard, Hans, Bjornsdottir, Unnur Steina, Bleecker, Eugene, Bønnelykke, Klaus, Boomsma, Dorret I., Bouzigon, Emmanuelle, Brightling, Christopher E., Brossard, Myriam, Brusselle, Guy G., Burchard, Esteban, Burkart, Kristin M., Bush, Andrew, Chan-Yeung, Moira, Chung, Kian Fan, Couto Alves, Alexessander, Curtin, John A., Custovic, Adnan, Daley, Denise, de Jongste, Johan C., Del-Rio-Navarro, Blanca E., Donohue, Kathleen M., Duijts, Liesbeth, Eng, Celeste, Eriksson, Johan G., Farrall, Martin, Fedorova, Yuliya, Feenstra, Bjarke, Ferreira, Manuel A., Freidin, Maxim B., Gajdos, Zofia, Gauderman, Jim, Gehring, Ulrike, Geller, Frank, Genuneit, Jon, Gharib, Sina A., Gilliland, Frank, Granell, Raquel, Graves, Penelope E., Gudbjartsson, Daniel F., Haahtela, Tari, Heckbert, Susan R., Heederik, Dick, Heinrich, Joachim, Heliövaara, Markku, Henderson, John, Himes, Blanca E., Hirose, Hiroshi, Hirschhorn, Joel N., Hofman, Albert, Holt, Patrick, Hottenga, Jouke, Hudson, Thomas J., Hui, Jennie, Imboden, Medea, Ivanov, Vladimir, Jaddoe, Vincent W. V., James, Alan, Janson, Christer, Jarvelin, Marjo-Riitta, Jarvis, Deborah, Jones, Graham, Jonsdottir, Ingileif, Jousilahti, Pekka, Kabesch, Michael, Kähönen, Mika, Kantor, David B., Karunas, Alexandra S., Khusnutdinova, Elza, Koppelman, Gerard H., Kozyrskyj, Anita L., Kreiner, Eskil, Kubo, Michiaki, Kumar, Rajesh, Kumar, Ashish, Kuokkanen, Mikko, Lahousse, Lies, Laitinen, Tarja, Laprise, Catherine, Lathrop, Mark, Lau, Susanne, Lee, Young-Ae, Lehtimäki, Terho, Letort, Sébastien, Levin, Albert M., Li, Guo, Liang, Liming, Loehr, Laura R., London, Stephanie J., Loth, Daan W., Manichaikul, Ani, Marenholz, Ingo, Martinez, Fernando J., Matheson, Melanie C., Mathias, Rasika A., Matsumoto, Kenji, Mbarek, Hamdi, McArdle, Wendy L., Melbye, Mads, Melén, Erik, Meyers, Deborah, Michel, Sven, Mohamdi, Hamida, Musk, Arthur W., Myers, Rachel A., Nieuwenhuis, Maartje A. E., Noguchi, Emiko, O’Connor, George T., Ogorodova, Ludmila M., Palmer, Cameron D., Palotie, Aarno, Park, Julie E., Pennell, Craig E., Pershagen, Göran, Polonikov, Alexey, Postma, Dirkje S., Probst-Hensch, Nicole, Puzyrev, Valery P., Raby, Benjamin A., Raitakari, Olli T., Ramasamy, Adaikalavan, Rich, Stephen S., Robertson, Colin F., Romieu, Isabelle, Salam, Muhammad T., Salomaa, Veikko, Schlünssen, Vivi, Scott, Robert, Selivanova, Polina A., Sigsgaard, Torben, Simpson, Angela, Siroux, Valérie, Smith, Lewis J., Solodilova, Maria, Standl, Marie, Stefansson, Kari, Strachan, David P., Stricker, Bruno H., Takahashi, Atsushi, Thompson, Philip J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tiesler, Carla M. T., Torgerson, Dara G., Tsunoda, Tatsuhiko, Uitterlinden, André G., van der Valk, Ralf J. P., Vaysse, Amaury, Vedantam, Sailaja, von Berg, Andrea, von Mutius, Erika, Vonk, Judith M., Waage, Johannes, Wareham, Nick J., Weiss, Scott T., White, Wendy B., Wickman, Magnus, Widén, Elisabeth, Willemsen, Gonneke, Williams, L. Keoki, Wouters, Inge M., Yang, James J., Zhao, Jing Hua, Moffatt, Miriam F., Ober, Carole, and Nicolae, Dan L.
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- 2018
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10. Filaggrin loss-of-function mutations are associated with persistence of egg and milk allergy
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Kalb, Birgit, primary, Marenholz, Ingo, additional, Jeanrenaud, Alexander C.S.N., additional, Meixner, Lara, additional, Arnau-Soler, Aleix, additional, Rosillo-Salazar, Oscar D., additional, Ghauri, Ahla, additional, Cibin, Penelope, additional, Blümchen, Katharina, additional, Schlags, Rupert, additional, Hansen, Gesine, additional, Seidenberg, Jürgen, additional, Keil, Thomas, additional, Lau, Susanne, additional, Niggemann, Bodo, additional, Beyer, Kirsten, additional, and Lee, Young-Ae, additional
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- 2022
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11. An interdisciplinary approach to characterize peanut‐allergic patients—First data from the FOOD@ consortium
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Worm, Margitta, primary, Alexiou, Aikaterina, additional, Höfer, Veronika, additional, Birkner, Till, additional, Jeanrenaud, Alexander C. S. N., additional, Fauchère, Florent, additional, Pazur, Kristijan, additional, Steinert, Carolin, additional, Arnau‐Soler, Aleix, additional, Banerjee, Priyanka, additional, Diefenbach, Andreas, additional, Dobbertin‐Welsch, Josefine, additional, Dölle‐Bierke, Sabine, additional, Francuzik, Wojciech, additional, Ghauri, Ahla, additional, Heller, Stephanie, additional, Kalb, Birgit, additional, Löber, Ulrike, additional, Marenholz, Ingo, additional, Markó, Lajos, additional, Scheffel, Jörg, additional, Potapenko, Olena, additional, Roll, Stephanie, additional, Lau, Susanne, additional, Lee, Young‐Ae, additional, Braun, Julian, additional, Thiel, Andreas, additional, Babina, Magda, additional, Altrichter, Sabine, additional, Forslund, Sofia Kirke, additional, and Beyer, Kirsten, additional
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- 2022
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12. An interdisciplinary approach to characterize peanut-allergic patients - first data from the FOOD@ consortium
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Worm, Margitta M., Alexiou, Aikaterina, Höfer, Veronika, Birkner, Till, Jeanrenaud, Alexander C.S.N., Fauchère, Florent, Pažur, Kristijan, Steinert, Carolin, Arnau-Soler, Aleix, Banerjee, Priyanka, Diefenbach, Andreas, Dobbertin-Welsch, Josefine, Dölle-Bierke, Sabine, Francuzik, W., Ghauri, Ahla, Heller, Stephanie, Kalb, Birgit, Löber, Ulrike, Marenholz, Ingo, Markó, Lajos, Scheffel, Jörg, Potapenko, Olena, Roll, Stephanie, Lau, Susanne, Lee, Young-ae, Braun, Julian, Thiel, Andreas, Babina, Magda, Altrichter, Sabine, Forslund, Sofia Kirke, Beyer, Kirsten, and Publica
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food allergy ,epigenetics ,Cardiovascular and Metabolic Diseases ,biomarker ,microbiome ,peanut allergy - Abstract
Background: Peanut allergy is a frequent cause of food allergy and potentially life-threatening. Within this interdisciplinary research approach, we aim to unravel the complex mechanisms of peanut allergy. As a first step were applied in an exploratory manner the analysis of peanut allergic versus non-allergic controls. Methods: Biosamples were studied regarding DNA methylation signatures, gut microbiome, adaptive and innate immune cell populations, soluble signaling molecules and allergen-reactive antibody specificities. We applied a scalable systems medicine computational workflow to the assembled data. Results: We identified combined cellular and soluble biomarker signatures that stratify donors into peanut-allergic and non-allergic with high specificity. DNA methylation profiling revealed various genes of interest and stool microbiota differences in bacteria abundances. Conclusion: By extending our findings to a larger set of patients (e.g., children vs. adults), we will establish predictors for food allergy and tolerance and translate these as for example, indicators for interventional studies.
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- 2022
13. A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis
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Schaarschmidt, Heidi, Ellinghaus, David, Rodríguez, Elke, Kretschmer, Anja, Baurecht, Hansjörg, Lipinski, Simone, Meyer-Hoffert, Ulf, Harder, Jürgen, Lieb, Wolfgang, Novak, Natalija, Fölster-Holst, Regina, Esparza-Gordillo, Jorge, Marenholz, Ingo, Ruschendorf, Franz, Hubner, Norbert, Reischl, Eva, Waldenberger, Melanie, Gieger, Christian, Illig, Thomas, Kabesch, Michael, Zhang, Xue-Jun, Xiao, Feng-Li, Lee, Young-Ae, Franke, Andre, and Weidinger, Stephan
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- 2015
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14. Novel childhood asthma genes interact with in utero and early-life tobacco smoke exposure
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Scholtens, Salome, Postma, Dirkje S., Moffatt, Miriam F., Panasevich, Sviatlana, Granell, Raquel, Henderson, John A., Melén, Erik, Nyberg, Fredrik, Pershagen, Göran, Jarvis, Deborah, Ramasamy, Adaikalavan, Wjst, Matthias, Svanes, Cecilie, Bouzigon, Emmanuelle, Demenais, Florence, Kauffmann, Francine, Siroux, Valérie, von Mutius, Erika, Ege, Markus Johannes, Braun-Fahrländer, Charlotte, Genuneit, Jon, Brunekreef, Bert, Smit, Henriette A., Wijga, Alet H., Kerkhof, Marjan, Curjuric, Ivan, Imboden, Medea, Thun, Gian A., Probst-Hensch, Nicole, Freidin, Maxim B., Bragina, Elena Iu., Deev, I. A., Puzyrev, V. P., Daley, Denise, Park, Julie, Becker, Allan, Chan-Yeung, Moira, Kozyrskyj, Anita L., Pare, Peter, Marenholz, Ingo, Lau, Susanne, Keil, Thomas, Lee, Young-Ae, Kabesch, Michael, Wijmenga, Cisca, Franke, Lude, Nolte, Ilja M., Vonk, Judith, Kumar, Ashish, Farrall, Martin, Cookson, William O.C.M., Strachan, David P., Koppelman, Gerard H., and Boezen, Marike H.
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- 2014
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15. Age-of-onset information helps identify 76 genetic variants associated with allergic disease
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Ferreira, Manuel A R, Vonk, Judith M., Baurecht, Hansjörg, Marenholz, Ingo, Tian, Chao, Hoffman, Joshua D., Helmer, Quinta, Tillander, Annika, Ullemar, Vilhelmina, Lu, Yi, Grosche, Sarah, Ruschendorf, Franz, Granell, Raquel, Brumpton, Ben Michael, Fritsche, Lars, Bhatta, Laxmi, Gabrielsen, Maiken Elvestad, Nielsen, Jonas Bille, Zhou, Wei, Hveem, Kristian, Langhammer, Arnulf, Holmen, Oddgeir, Løset, Mari, Abecasis, Goncalo, Willer, Cristen J., Emami, Nima C., Cavazos, Taylor B., Witte, John S., Szwajda, Agnieszka, 23andMe Research Team,, collaborators of SHARE study,, Hinds, David A., Hubner, Norbert, Weidinger, Stephan, Magnusson, Patrik KE, Jorgenson, Eric, Karlsson, Robert, Paternoster, Lavinia, Boomsma, Dorret I., Almqvist, Catarina, Lee, Young-Ae, Koppelman, Gerard H., Esparza-Gordillo, Jorge, Hummel, Oliver, Hottenga, Jouke-Jan, Willemsen, Gonneke, Rodríguez, Elke, Hotze, Melanie, Franke, Andre, Matheson, Melanie C., Dharmage, Shyamali Chandrika, Arnold, Andreas, Homuth, Georg, Schmidt, Carsten O, Thompson, Philip J., Martin, Nicholas G, Duffy, David L., Novak, Natalija, Schulz, Holger, Karrasch, Stefan, Gieger, Christian, Strauch, Konstantin, Melles, Ronald B, Bouzigon, Emmanuelle, Biological Psychology, APH - Mental Health, APH - Methodology, and Groningen Research Institute for Asthma and COPD (GRIAC)
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HAY-FEVER ,Male ,Netherlands Twin Register (NTR) ,Cancer Research ,Allergy ,Pulmonology ,Epidemiology ,Eczema ,Genome-wide association study ,Disease ,QH426-470 ,collaborators of the SHARE study ,0302 clinical medicine ,Allergies ,Medicine and Health Sciences ,ATOPIC-DERMATITIS ,2.1 Biological and endogenous factors ,Biologiska vetenskaper ,Aetiology ,Age of Onset ,Child ,Lung ,Genetics (clinical) ,Rhinitis ,0303 health sciences ,Allergic Diseases ,Single Nucleotide ,Genomics ,PKC-THETA ,Middle Aged ,Biological Sciences ,ALSPAC ,II RECEPTOR ,Hay fever ,Female ,Research Article ,Allergic Rhinitis ,Adult ,SUSCEPTIBILITY LOCI ,Adolescent ,Immunology ,Food Allergies ,Late onset ,Dermatology ,Biology ,23andMe Research Team ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,Allergic ,CD200 RECEPTOR ,SDG 3 - Good Health and Well-being ,Clinical Research ,medicine ,Genome-Wide Association Studies ,Genetics ,Humans ,GENOME-WIDE ASSOCIATION ,Polymorphism ,Molecular Biology ,Ecology, Evolution, Behavior and Systematics ,030304 developmental biology ,Asthma ,Aged ,Seasonal ,Prevention ,Inflammatory and immune system ,Human Genome ,Biology and Life Sciences ,Computational Biology ,Rhinitis, Allergic, Seasonal ,Human Genetics ,Rhinology ,medicine.disease ,Genome Analysis ,RISK LOCI ,Otorhinolaryngology ,Cardiovascular and Metabolic Diseases ,Genetic Loci ,Medical Risk Factors ,Expression quantitative trait loci ,Genetics of Disease ,T-CELLS ,Nasal Diseases ,Clinical Immunology ,Age of onset ,Clinical Medicine ,030217 neurology & neurosurgery ,Developmental Biology ,Genome-Wide Association Study - Abstract
Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema. Self-reported age-of-onset information was available for 117,130 genotyped individuals of European ancestry from the UK Biobank study. For each individual, we identified the earliest age at which asthma, hay fever and/or eczema was first diagnosed and performed a genome-wide association study (GWAS) of this combined age-of-onset phenotype. We identified 50 variants with a significant independent association (P, Author summary So far, genetic studies of allergic disease have investigated the presence of the disease rather than the age at which the first allergic symptoms develop. We aimed to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema by examining 117,130 genotyped individuals of European ancestry from the UK Biobank study. We identified 50 variants with a significant independent association (P
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- 2020
16. A common haplotype of the IL-31 gene influencing gene expression is associated with nonatopic eczema
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Schulz, Florian, Marenholz, Ingo, Fölster-Holst, Regina, Chen, Christiane, Sternjak, Alexander, Baumgrass, Ria, Esparza-Gordillo, Jorge, Grüber, Christoph, Nickel, Renate, Schreiber, Stefan, Stoll, Monika, Kurek, Michael, Rüschendorf, Franz, Hubner, Norbert, Wahn, Ulrich, and Lee, Young-Ae
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- 2007
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17. A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis
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Esparza-Gordillo, Jorge, Schaarschmidt, Heidi, Liang, Liming, Cookson, William, Bauerfeind, Anja, Lee-Kirsch, Min-Ae, Nemat, Katja, Henderson, John, Paternoster, Lavinia, Harper, John I., Mangold, Elisabeth, Nothen, Markus M., Rüschendorf, Franz, Kerscher, Tamara, Marenholz, Ingo, Matanovic, Anja, Lau, Susanne, Keil, Thomas, Bauer, Carl-Peter, Kurek, Michael, Ciechanowicz, Andrzej, Macek, Milan, Franke, Andre, Kabesch, Michael, Hubner, Norbert, Abecasis, Gonçalo, Weidinger, Stephan, Moffatt, Miriam, and Lee, Young-Ae
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- 2013
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18. Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21
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Meza-Zepeda, Leonardo A, Forus, Anne, Lygren, Birgitte, Dahlberg, Anine B, Godager, Linda H, South, Andrew P, Marenholz, Ingo, Lioumi, Maria, Flørenes, Vivi Ann, Mælandsmo, Gunhild M, Serra, Massimo, Mischke, Dietmar, Nizetic, Dean, Ragoussis, Jiannis, Tarkkanen, Maija, Nesland, Jahn M, Knuutila, Sakari, and Myklebost, Ola
- Published
- 2002
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19. Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march
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Marenholz, Ingo, Nickel, Renate, Rüschendorf, Franz, Schulz, Florian, Esparza-Gordillo, Jorge, Kerscher, Tamara, Grüber, Christoph, Lau, Susanne, Worm, Margitta, Keil, Thomas, Kurek, Michael, Zaluga, Elisabetha, Wahn, Ulrich, and Lee, Young-Ae
- Published
- 2006
- Full Text
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20. Genomic organization and mapping of the human and mouse neuronal β2-nicotinic acetylcholine receptor genes
- Author
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Lueders, Kira K., Elliott, Rosemary W., Marenholz, Ingo, Mischke, Dietmar, DuPree, Michael, and Hamer, Dean
- Published
- 1999
- Full Text
- View/download PDF
21. The eczema risk variant on chromosome 11q13 (rs7927894) in the population-based ALSPAC cohort: a novel susceptibility factor for asthma and hay fever
- Author
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Marenholz, Ingo, Bauerfeind, Anja, Esparza-Gordillo, Jorge, Kerscher, Tamara, Granell, Raquel, Nickel, Renate, Lau, Susanne, Henderson, John, and Lee, Young-Ae
- Published
- 2011
- Full Text
- View/download PDF
22. Phenotype consensus is required to enable large‐scale genetic consortium studies of food allergy
- Author
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Asai, Yuka, primary, Martino, David, additional, Eiwegger, Thomas, additional, Nadeau, Kari, additional, Koppelman, Gerard H., additional, Clarke, Ann E., additional, Lee, Young‐Ae, additional, Chan, Edmond S., additional, Simons, Elinor, additional, Laprise, Catherine, additional, Mazer, Bruce, additional, Marenholz, Ingo, additional, Royce, Diana, additional, Elliott, Susan J., additional, Hampson, Christine, additional, Gerdts, Jennifer, additional, Eslami, Aida, additional, Soller, Lianne, additional, Hui, Jennie, additional, Azad, Meghan, additional, Sandford, Andrew, additional, and Daley, Denise, additional
- Published
- 2020
- Full Text
- View/download PDF
23. Interaction between filaggrin mutations and neonatal cat exposure in atopic dermatitis
- Author
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Thyssen, Jacob P., primary, Ahluwalia, Tarunveer S., additional, Paternoster, Lavinia, additional, Ballardini, Natalia, additional, Bergström, Anna, additional, Melén, Erik, additional, Chawes, Bo L., additional, Stokholm, Jakob, additional, Hourihane, Jonathan O'B, additional, O'Sullivan, Donnchadh M., additional, Bager, Peter, additional, Melbye, Mads, additional, Bustamante, Mariona, additional, Torrent, Maties, additional, Esplugues, Ana, additional, Duijts, Liesbeth, additional, Hu, Chen, additional, Elbert, Niels J., additional, Pasmans, Suzanne G. M. A., additional, Nijsten, Tamar E. C., additional, von Berg, Andrea, additional, Standl, Marie, additional, Schikowski, Tamara, additional, Herberth, Gunda, additional, Heinrich, Joachim, additional, Lee, Young‐Ae, additional, Marenholz, Ingo, additional, Lau, Susanne, additional, Curtin, John A., additional, Simpson, Angela, additional, Custovic, Adnan, additional, Pennell, Craig E., additional, Wang, Carol A., additional, Holt, Patrick G., additional, Bisgaard, Hans, additional, and Bønnelykke, Klaus, additional
- Published
- 2020
- Full Text
- View/download PDF
24. Association of Filaggrin loss-of-function-mutations with atopic dermatitis and asthma in the Early Treatment of the Atopic Child (ETAC) population
- Author
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Müller, Sebastian, Marenholz, Ingo, Lee, Young-Ae, Sengler, Claudia, Zitnik, Simona Eva, Griffioen, Rupino W., Meglio, Paolo, Wahn, Ulrich, and Nickel, Renate
- Published
- 2009
- Full Text
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25. An interaction between filaggrin mutations and early food sensitization improves the prediction of childhood asthma
- Author
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Marenholz, Ingo, Kerscher, Tamara, Bauerfeind, Anja, Esparza-Gordillo, Jorge, Nickel, Renate, Keil, Thomas, Lau, Susanne, Rohde, Klaus, Wahn, Ulrich, and Lee, Young-Ae
- Published
- 2009
26. Lack of association of the G protein–coupled receptor for asthma susceptibility gene with atopic dermatitis
- Author
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Söderhäll, Cilla, Marenholz, Ingo, Nickel, Renate, Grüber, Christoph, Kehrt, Rainer, Rohde, Klaus, Griffioen, Rupino W., Meglio, Paolo, Tarani, Luigi, Gustafsson, Dan, Hoffmann, Ute, Gerstner, Bettina, Müller, Sebastian, Wahn, Ulrich, and Lee, Young-Ae
- Published
- 2005
27. Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex
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Huber, Marcel, Siegenthaler, Georges, Mirancea, Nicolae, Marenholz, Ingo, Nizetic, Dean, Breitkreutz, Dirk, Mischke, Dietmar, and Hohl, Daniel
- Published
- 2005
28. SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility
- Author
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Günther, Claudia, Lee-Kirsch, Min Ae, Eckhard, Jamina, Matanovic, Anja, Kerscher, Tamara, Rüschendorf, Franz, Klein, Benjamin, Berndt, Nicole, Zimmermann, Nick, Flachmeier, Christina, Thuß, Theresa, Lucas, Nadja, Marenholz, Ingo, Esparza-Gordillo, Jorge, Hübner, Norbert, Traupe, Heiko, Delaporte, Emmanuel, and Lee, Young-Ae
- Published
- 2018
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29. Human Epidermal Differentiation Complex in a Single 2.5 Mbp Long Continuum of Overlapping DNA Cloned in Bacteria Integrating Physical and Transcript Maps
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South, Andrew P., Cabral, Adriana, Ives, Jane H., James, Colin H., Mirza, Ghazala, Marenholz, Ingo, Mischke, Dietmar, Backendorf, Claude, Ragoussis, Jiannis, and Nizetic, Dean
- Published
- 1999
30. Multi-locus stepwise regression: a haplotype-based algorithm for finding genetic associations applied to atopic dermatitis
- Author
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Knüppel Sven, Esparza-Gordillo Jorge, Marenholz Ingo, Holzhütter Hermann-Georg, Bauerfeind Anja, Ruether Andreas, Weidinger Stephan, Lee Young-Ae, and Rohde Klaus
- Subjects
Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Genome-wide association studies (GWAS) provide an increasing number of single nucleotide polymorphisms (SNPs) associated with diseases. Our aim is to exploit those closely spaced SNPs in candidate regions for a deeper analysis of association beyond single SNP analysis, combining the classical stepwise regression approach with haplotype analysis to identify risk haplotypes for complex diseases. Methods Our proposed multi-locus stepwise regression starts with an evaluation of all pair-wise SNP combinations and then extends each SNP combination stepwise by one SNP from the region, carrying out haplotype regression in each step. The best associated haplotype patterns are kept for the next step and must be corrected for multiple testing at the end. These haplotypes should also be replicated in an independent data set. We applied the method to a region of 259 SNPs from the epidermal differentiation complex (EDC) on chromosome 1q21 of a German GWAS using a case control set (1,914 individuals) and to 268 families with at least two affected children as replication. Results A 4-SNP haplotype pattern with high statistical significance in the case control set (p = 4.13 × 10-7 after Bonferroni correction) could be identified which remained significant in the family set after Bonferroni correction (p = 0.0398). Further analysis revealed that this pattern reflects mainly the effect of the well-known FLG gene; however, a FLG-independent haplotype in case control set (OR = 1.71, 95% CI: 1.32-2.23, p = 5.6 × 10-5) and family set (OR = 1.68, 95% CI: 1.18-2.38, p = 2.19 × 10-3) could be found in addition. Conclusion Our approach is a useful tool for finding allele combinations associated with diseases beyond single SNP analysis in chromosomal candidate regions.
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- 2012
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31. Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy
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Marenholz, Ingo, Grosche, Sarah, Kalb, Birgit, Rüschendorf, Franz, Blümchen, Katharina, Schlags, Rupert, Harandi, Neda, Price, Mareike, Hansen, Gesine, Seidenberg, Jürgen, Röblitz, Holger, Yürek, Songül, Tschirner, Sebastian, Hong, Xiumei, Wang, Xiaobin, Homuth, Georg, Schmidt, Carsten, Nöthen, Markus Maria, Hübner, Norbert, Niggemann, Bodo, Beyer, Kirsten, and Lee, Young-Ae
- Subjects
ddc:610 - Abstract
Genetic factors and mechanisms underlying food allergy are largely unknown. Due to heterogeneity of symptoms a reliable diagnosis is often difficult to make. Here, we report a genome-wide association study on food allergy diagnosed by oral food challenge in 497 cases and 2387 controls. We identify five loci at genome-wide significance, the clade B serpin (SERPINB) gene cluster at 18q21.3, the cytokine gene cluster at 5q31.1, the filaggrin gene, the C11orf30/LRRC32 locus, and the human leukocyte antigen (HLA) region. Stratifying the results for the causative food demonstrates that association of the HLA locus is peanut allergy-specific whereas the other four loci increase the risk for any food allergy. Variants in the SERPINB gene cluster are associated with SERPINB10 expression in leukocytes. Moreover, SERPINB genes are highly expressed in the esophagus. All identified loci are involved in immunological regulation or epithelial barrier function, emphasizing the role of both mechanisms in food allergy.
- Published
- 2017
32. Evaluation of food allergy candidate loci in the Genetics of Food Allergy study
- Author
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Marenholz, Ingo, primary, Grosche, Sarah, additional, Rüschendorf, Franz, additional, Kalb, Birgit, additional, Blumchen, Katharina, additional, Schlags, Rupert, additional, Harandi, Neda, additional, Price, Mareike, additional, Hansen, Gesine, additional, Seidenberg, Jürgen, additional, Yürek, Songül, additional, Homuth, Georg, additional, Schmidt, Carsten O., additional, Nöthen, Markus M., additional, Hubner, Norbert, additional, Niggemann, Bodo, additional, Beyer, Kirsten, additional, and Lee, Young-Ae, additional
- Published
- 2018
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33. Genes Encoding Structural Proteins of Epidermal Cornification and S100 Calcium-Binding Proteins Form a Gene Complex ("Epidermal Differentiation Complex") on Human Chromosome 1q21
- Author
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Mischke, Dietmar, Korge, Bernhard P., Marenholz, Ingo, Volz, Armin, and Ziegler, Andreas
- Published
- 1996
34. A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma
- Author
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Asai, Yuka, primary, Eslami, Aida, additional, van Ginkel, C. Dorien, additional, Akhabir, Loubna, additional, Wan, Ming, additional, Yin, David, additional, Ellis, George, additional, Ben-Shoshan, Moshe, additional, Marenholz, Ingo, additional, Martino, David, additional, Ferreira, Manuel A., additional, Allen, Katrina, additional, Mazer, Bruce, additional, de Groot, Hans, additional, de Jong, Nicolette W., additional, Gerth van Wijk, Roy, additional, Dubois, Anthony E.J., additional, Grosche, Sarah, additional, Ashley, Sarah, additional, Rüschendorf, Franz, additional, Kalb, Birgit, additional, Beyer, Kirsten, additional, Nöthen, Markus M., additional, Lee, Young-Ae, additional, Chin, Rick, additional, Cheuk, Stephen, additional, Hoffman, Joshua, additional, Jorgensen, Eric, additional, Witte, John S., additional, Melles, Ronald B., additional, Hong, Xiumei, additional, Wang, Xiaobin, additional, Hui, Jennie, additional, Musk, Arthur W. (Bill), additional, Hunter, Michael, additional, James, Alan L., additional, Koppelman, Gerard H., additional, Sandford, Andrew J., additional, Clarke, Ann E., additional, and Daley, Denise, additional
- Published
- 2018
- Full Text
- View/download PDF
35. Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy
- Author
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Marenholz, Ingo, primary, Grosche, Sarah, additional, Kalb, Birgit, additional, Rüschendorf, Franz, additional, Blümchen, Katharina, additional, Schlags, Rupert, additional, Harandi, Neda, additional, Price, Mareike, additional, Hansen, Gesine, additional, Seidenberg, Jürgen, additional, Röblitz, Holger, additional, Yürek, Songül, additional, Tschirner, Sebastian, additional, Hong, Xiumei, additional, Wang, Xiaobin, additional, Homuth, Georg, additional, Schmidt, Carsten O., additional, Nöthen, Markus M., additional, Hübner, Norbert, additional, Niggemann, Bodo, additional, Beyer, Kirsten, additional, and Lee, Young-Ae, additional
- Published
- 2017
- Full Text
- View/download PDF
36. Genome-wide association study unravels genetic determinants of the atopic march
- Author
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Marenholz, Ingo, Esparza-Gordillo, J., Rueschendorf, F., Strachan, D. P., Spycher, B. D., Baurecht, H., Margaritte-Jeannin, P., Saeaef, A., Kerkhof, M., Ege, M., Baltic, S., Matheson, M. C., Li, J., Ang, W. Q., McArdle, W., Homuth, G., Bouzigon, E., Pershagen, G., Postma, D. S., Braun-Fahrlaender, C., Duffy, D. L., Marks, G. B., Robertson, C. F., Martin, N. G., James, A., Sleiman, P., Foelster-Holst, R., Lieb, W., Gieger, C., Rietschel, E., Keil, T., Noethen, M. M., Sly, P. D., Schmidt, C. O., Matanovic, A., Holt, Pg P. G., Lau, S., Kabesch, M., Weidinger, S., Hakonarson, H., Ferreira, M. A. R., Laprise, C., Freidin, M. B., Genuneit, J., Koppelman, G. H., Melen, E., Dizier, M-H, Henderson, A. J., Lee, Y-A, and Groningen Research Institute for Asthma and COPD (GRIAC)
- Published
- 2016
37. Meta-analysis identifies seven susceptibility loci involved in the atopic march
- Author
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Marenholz, Ingo, Esparza-Gordillo, Jorge, Rüschendorf, Franz, Bauerfeind, Anja, Strachan, David P., Spycher, Ben D., Baurecht, Hansjörg, Margaritte-Jeannin, Patricia, Sääf, Annika, Kerkhof, Marjan, Ege, Markus, Baltic, Svetlana, Matheson, Melanie C., Li, Jin, Michel, Sven, Ang, Wei Q., McArdle, Wendy, Arnold, Andreas, Homuth, Georg, Demenais, Florence, Bouzigon, Emmanuelle, Söderhäll, Cilla, Pershagen, Göran, de Jongste, Johan C., Postma, Dirkje S., Braun-Fahrländer, Charlotte, Horak, Elisabeth, Ogorodova, Ludmila M., Puzyrev, Valery P., Bragina, Elena Yu, Hudson, Thomas J., Morin, Charles, Duffy, David L., Marks, Guy B., Robertson, Colin F., Montgomery, Grant W., Musk, Bill, Thompson, Philip J., Martin, Nicholas G., James, Alan, Sleiman, Patrick, Toskala, Elina, Rodriguez, Elke, Fölster-Holst, Regina, Franke, Andre, Lieb, Wolfgang, Gieger, Christian, Heinzmann, Andrea, Rietschel, Ernst, Keil, Thomas, Cichon, Sven, Nöthen, Markus M., Pennell, Craig E., Sly, Peter D., Schmidt, Carsten O., Matanovic, Anja, Schneider, Valentin, Heinig, Matthias, Hübner, Norbert, Holt, Patrick G., Lau, Susanne, Kabesch, Michael, Weidinger, Stefan, Hakonarson, Hakon, Ferreira, Manuel A. R., Laprise, Catherine, Freidin, Maxim B., Genuneit, Jon, Koppelman, Gerard H., Melén, Erik, Dizier, Marie- Hélène, Henderson, A John, Lee, Young Ae, Gastroenterology & Hepatology, Pediatrics, Erasmus MC other, and Groningen Research Institute for Asthma and COPD (GRIAC)
- Subjects
HAY-FEVER ,Male ,Kinesins ,Filaggrin Proteins ,FOOD ALLERGY ,FILAGGRIN MUTATIONS ,immune system diseases ,Child ,RISK ,BIRTH COHORT ,Nuclear Proteins ,Middle Aged ,Neoplasm Proteins ,DNA-Binding Proteins ,Phenotype ,Child, Preschool ,Disease Progression ,Female ,ddc:500 ,Adult ,Adolescent ,Genotype ,Nerve Tissue Proteins ,610 Medicine & health ,Polymorphism, Single Nucleotide ,Article ,Dermatitis, Atopic ,Ikaros Transcription Factor ,Young Adult ,360 Social problems & social services ,Humans ,Genetic Predisposition to Disease ,JUVENILE MYOCLONIC EPILEPSY ,ddc:610 ,Receptor, Fibroblast Growth Factor, Type 1 ,CHROMOSOME 11Q13 ,Calcium-Binding Proteins ,CHILDHOOD ASTHMA ,Membrane Proteins ,Asthma ,Repressor Proteins ,DERMATITIS ,Adaptor Proteins, Vesicular Transport ,Amino Acid Transport Systems, Neutral ,Logistic Models ,Cardiovascular and Metabolic Diseases ,GENOMEWIDE ASSOCIATION ,Interleukin-4 ,Carrier Proteins ,Genome-Wide Association Study ,Transcription Factors - Abstract
Eczema often precedes the development of asthma in a disease course called the ‘atopic march'. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10−8) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10−9). Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). We show that predominantly eczema loci increase the risk for the atopic march. Our findings suggest that eczema may play an important role in the development of asthma after eczema., The development of asthma following eczema is known as the atopic march. Here the authors conduct a GWAS on affected children and identify two novel loci associated with the disease phenotype.
- Published
- 2015
38. Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms
- Author
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Baurecht, Hansjörg, primary, Hotze, Melanie, additional, Brand, Stephan, additional, Büning, Carsten, additional, Cormican, Paul, additional, Corvin, Aiden, additional, Ellinghaus, David, additional, Ellinghaus, Eva, additional, Esparza-Gordillo, Jorge, additional, Fölster-Holst, Regina, additional, Franke, Andre, additional, Gieger, Christian, additional, Hubner, Norbert, additional, Illig, Thomas, additional, Irvine, Alan D., additional, Kabesch, Michael, additional, Lee, Young A.E., additional, Lieb, Wolfgang, additional, Marenholz, Ingo, additional, McLean, W.H. Irwin, additional, Morris, Derek W., additional, Mrowietz, Ulrich, additional, Nair, Rajan, additional, Nöthen, Markus M., additional, Novak, Natalija, additional, O’Regan, Grainne M., additional, Schreiber, Stefan, additional, Smith, Catherine, additional, Strauch, Konstantin, additional, Stuart, Philip E., additional, Trembath, Richard, additional, Tsoi, Lam C., additional, Weichenthal, Michael, additional, Barker, Jonathan, additional, Elder, James T., additional, Weidinger, Stephan, additional, Cordell, Heather J., additional, and Brown, Sara J., additional
- Published
- 2015
- Full Text
- View/download PDF
39. The genetics of the skin barrier in eczema and other allergic disorders
- Author
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Marenholz, Ingo, primary, Esparza-Gordillo, Jorge, additional, and Lee, Young-Ae, additional
- Published
- 2015
- Full Text
- View/download PDF
40. Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance
- Author
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Esparza-Gordillo, Jorge, primary, Matanovic, Anja, additional, Marenholz, Ingo, additional, Bauerfeind, Anja, additional, Rohde, Klaus, additional, Nemat, Katja, additional, Lee-Kirsch, Min-Ae, additional, Nordenskjöld, Magnus, additional, Winge, Marten C. G., additional, Keil, Thomas, additional, Krüger, Renate, additional, Lau, Susanne, additional, Beyer, Kirsten, additional, Kalb, Birgit, additional, Niggemann, Bodo, additional, Hübner, Norbert, additional, Cordell, Heather J., additional, Bradley, Maria, additional, and Lee, Young-Ae, additional
- Published
- 2015
- Full Text
- View/download PDF
41. A Large-Scale, Consortium-Based Genomewide Association Study of Asthma
- Author
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Moffatt, Miriam F. Gut, Ivo G. Demenais, Florence Strachan, David P. Bouzigon, Emmanuelle Heath, Simon von Mutius, Erika and Farrall, Martin Lathrop, Mark Cookson, William O. C. M. and Kumar, Ashish Burney, Peter Jarvis, Debbie Wjst, Matthias and Kogevinas, Manolis Jogi, Rain Janson, Christer Franklin, Karl A. Omenaas, Ernst Leynaert, Benedicte Pin, Isabelle and Heinrich, Joachim Probst-Hensch, Nicole M. Anto, Josep M. and Sunyer, Jordi Maldonado, Jose-Antonio Martinez-Moratalla, Jesus and Urrutia, Isabel Payo, Felix Kauffmann, Francine Dizier, Marie-Helene Siroux, Valerie Boznanski, Andrzej and Braun-Fahrlaender, Charlotte Genuneit, Jon Glas, Juergen and Horak, Elisabeth Kabesch, Michael Pillai, Sreekumar G. and Helms, Peter J. Carlsen, Karin Carlsen, Kai-Hakon Gerritsen, Jorrit Silverman, Michael Sly, Peter Tsanakas, John Von Berg, Andrea Whyte, Moira Blumenthal, Malcolm Imboden, Medea and Rochat, Thierry Thun, Gian Andri Gerbase, Margaret W. and Curjuric, Ivan Gaspoz, Jean-Michel Liu, Lee-Jane S. Wouters, Inge M. Sigsgaard, Torben Heederik, Dick Basinas, Ioannis and Schlunssen, Vivi Omland, Oyvind Cullinan, Paul and Vermeulen, Roel Henderson, John Granell, Raquel McArdle, Wendy L. Smith, George Davey James, Alan L. Hui, Jennie and Palmer, Lyle J. Beilby, John Musk, A. William Laprise, Catherine Hudson, Thomas J. Lemire, Mathieu Daley, Denise and Becker, Allan Chan-Yeung, Moira Sandford, Andrew and Kozyrskyj, Anita L. Pare, Peter Ferguson, Alexander and Dimich-Ward, Helen Watson, Wade T. Freidin, Maxim B. and Bragina, Elena Iu. Deev, Ivan A. Deeva, Eugenia V. and Kobyakova, Olga S. Puzyrev, Valery P. Ogorodova, Ludmila M. and Khusnutdinova, Elza K. Karunas, Alexandra S. Fedorova, Yuliya Y. and Hall, Ian P. Sayers, Ian Tobin, Martin D. Wan, Yize I. and Heaney, Liam G. Al-Momani, Basima A. H. Mansur, Adel H. and Manney, Sarah Thomson, Neil C. Chaudhuri, Rekha Brightling, Christopher E. Bafadhel, Mona Singapuri, Amisha Niven, Robert Simpson, Angela Holloway, John W. Howarth, Peter H. and Polonikov, Alexey V. Ivanov, Vladimir P. Solodilova, Maria A. Melen, Erik Pershagen, Goeran Bergstroem, Anna Kull, Inger Nyberg, Fredrik Wickman, Magnus Soderhall, Cilla and Kere, Juha Postma, Dirkje S. Kerkhof, Marjan Brunekreef, Bert Smit, Henriette A. de Jongste, Johan C. Wijga, Alet and Aalberse, R. C. Hoekstra, Maarten O. Koppelman, Gerard H. and Binia, Aristea Chung, Kian Fan Bhavsar, Pankaj Chow, Florence Macedo, Patricia Menzies-Gow, Andrew van Stiphout, Nicole Bush, Andrew Lee, Young-Ae Esparza-Gordillo, Jorge and Nickel, Renate Wahn, Ulrich Lau, Susanne Marenholz, Ingo and Haahtela, Tari von Hertzen, Leena Jousilahti, Pekka and Laatikainen, Tiina Makela, Mika J. Vartiainen, Erkki and Laitinen, Tarja Balding, David J. Peden, John F. Corda, Eve and Lechner, Doris Besse, Celine Zelenika, Diana Boland, Anne Bacq, Delphine Demonchy, Stephanie Blanche, Helene and Kamatani, Yoichiro von Mutius, Erika Farrall, Martin and Lathrop, Mark Cookson, William O. C. M. GABRIEL Consortium
- Abstract
BACKGROUND Susceptibility to asthma is influenced by genes and environment; implicated genes may indicate pathways for therapeutic intervention. Genetic risk factors may be useful in identifying subtypes of asthma and determining whether intermediate phenotypes, such as elevation of the total serum IgE level, are causally linked to disease. METHODS We carried out a genomewide association study by genotyping 10,365 persons with physician-diagnosed asthma and 16,110 unaffected persons, all of whom were matched for ancestry. We used random-effects pooled analysis to test for association in the overall study population and in subgroups of subjects with childhood-onset asthma (defined as asthma developing before 16 years of age), later-onset asthma, severe asthma, and occupational asthma. RESULTS We observed associations of genomewide significance between asthma and the following single-nucleotide polymorphisms: rs3771166 on chromosome 2, implicating IL1RL1/IL18R1 (P = 3x10(-9)); rs9273349 on chromosome 6, implicating HLA-DQ (P = 7x10(-14)); rs1342326 on chromosome 9, flanking IL33 (P = 9x10(-10)); rs744910 on chromosome 15 in SMAD3 (P = 4x10(-9)); and rs2284033 on chromosome 22 in IL2RB (P = 1.1x10(-8)). Association with the ORMDL3/GSDMB locus on chromosome 17q21 was specific to childhood-onset disease (rs2305480, P = 6x10(-23)). Only HLA-DR showed a significant genomewide association with the total serum IgE concentration, and loci strongly associated with IgE levels were not associated with asthma. CONCLUSIONS Asthma is genetically heterogeneous. A few common alleles are associated with disease risk at all ages. Implicated genes suggest a role for communication of epithelial damage to the adaptive immune system and activation of airway inflammation. Variants at the ORMDL3/GSDMB locus are associated only with childhood-onset disease. Elevation of total serum IgE levels has a minor role in the development of asthma.
- Published
- 2010
42. SMARCAD1Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility
- Author
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Günther, Claudia, Lee-Kirsch, Min Ae, Eckhard, Jamina, Matanovic, Anja, Kerscher, Tamara, Rüschendorf, Franz, Klein, Benjamin, Berndt, Nicole, Zimmermann, Nick, Flachmeier, Christina, Thuß, Theresa, Lucas, Nadja, Marenholz, Ingo, Esparza-Gordillo, Jorge, Hübner, Norbert, Traupe, Heiko, Delaporte, Emmanuel, and Lee, Young-Ae
- Published
- 2018
- Full Text
- View/download PDF
43. Shared genetic determinants between eczema and other immune-related diseases
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Marenholz, Ingo, primary, Esparza-Gordillo, Jorge, additional, and Lee, Young-Ae, additional
- Published
- 2013
- Full Text
- View/download PDF
44. Molekulargenetische Charakterisierung des Epidermalen Differenzierungskomplexes (EDC) auf Chromosom 1 des Menschen
- Author
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Marenholz, Ingo
- Subjects
1q21 ,epidermal ,500 Naturwissenschaften und Mathematik::570 Biowissenschaften ,Biologie::570 Biowissenschaften ,Biologie ,differentiation ,chromosome 1 ,complex ,EDC - Abstract
Titel I Inhaltsverzeichnis III Danksagung VII Symbole und Abkürzungen IX I EINLEITUNG 1 1 Die Haut - Aufbau und Funktion 1 2 Die Differenzierung der Epidermis 2 3 Molekularbiologie der Keratinozyten 4 4 Die Bedeutung der Region 1q21 für die Epidermisdifferenzierung 9 5 Der Epidermale Differenzierungskomplex (EDC) 12 6 EDC-assoziierte Krankheiten 12 7 Genomanalyse 15 8 Genetische Kartierung 16 9 Physikalische Kartierung 17 10 Methoden zur Identifizierung neuer Gene 20 11 Das Humangenom-Projekt 22 12 Ziele der Arbeit 25 II MATERIAL & METHODEN 27 1 Geräte 27 2 Arbeitsmaterial & Hilfsmittel 27 3 Reagenzien 28 4 Enzyme 29 5 Reagenziensets 29 6 Nucleinsäuren 30 6.1 Vektoren 30 6.2 DNA-Sonden 30 6.3 Oligonucleotid-Primer 31 6.4 Molekulargewichtsstandards 31 7 DNA-Bibliotheken 32 8 Lösungen 32 8.1 Stammlösungen 32 8.2 Puffer 33 8.3 Nährmedien 35 9 Zellen und ihre Aufzucht 35 9.1 Zellkultur 35 9.2 Hefekultur 36 9.3 Bakterienkultur 36 10 DNA-Isolierung 36 10.1 Genomische DNA des Menschen (hoch- bzw. niedermolekular) 36 10.2 DNA aus Hefezellen (hoch- bzw. niedermolekular) 37 10.3 YAC-DNA (Elektroelution) 38 10.4 Plasmid-DNA 39 10.5 Plasmidinserts (Elution mit Glas-beads) 39 10.6 Konzentrationsbestimmung von Nucleinsäuren 40 11 Restriktionsanalyse 40 11.1 Restriktion von DNA in Lösung 40 11.2 Restriktion von DNA in Agarose 40 12 DNA-Klonierung 41 12.1 Ligation 41 12.2 Herstellung kompetenter Zellen 42 12.3 Transformation 42 13 Gelelektrophorese 43 13.1 Polyacrylamidgelelektrophorese (PAGE) 43 13.2 Agarosegelelektrophorese 43 13.3 Gelelektrophorese im rotierenden Feld (ROFE) 43 13.4 DNA-Nachweis mit Ethidiumbromid 44 14 Southern-Blotting 44 15 Radioaktive Hybridisierung 45 15.1 DNA-Sonden 45 15.2 Markierung der Sonde 45 15.3 Hybridisierung 46 15.4 Autoradiographie 47 16 Polymerasekettenreaktion (PCR) 48 17 DNA-Sequenzierung (Didesoxy-Verfahren) 49 17.1 Sequenzierungsreaktion 49 17.2 Denaturierende Polyacrylamidgelelektrophorese 50 17.3 Detektion und Fehlerkorrektur 50 18 Computergestützte Sequenzanalysen 51 19 Herstellung einer feingerasterten (gridded) cDNA-Bibliothek 51 19.1 Aufziehen der Klone 52 19.2 Automatisches Auflesen der Klone (picking) 54 19.3 Vervielfältigung der cDNA-Bibliothek (replicating) 54 19.4 Automatisches Aufbringen der Klone auf Membranen (spotting) 55 19.5 Verarbeiten der Filter (processing) 56 19.6 Verwalten der cDNA-Bibliothek 56 III ERGEBNISSE 58 1 Erstellung eines YAC-Contigs der Region 1q21 58 1.1 Auswahl der YAC-Klone 58 1.2 YAC-Größenbestimmung 61 1.3 Charakterisierung instabiler YACs 61 1.4 Zusammensetzen eines Contigs des EDC 62 1.5 Erweiterung des Contigs durch die Integration genetischer Marker 63 1.6 Herstellung und Kartierung neuer Sonden zur Erhöhung der Markerdichte 66 1.7 Identifizierung rearrangierter YACs 67 1.8 Chromosomale Orientierung des EDC 67 1.9 Diskussion 69 2 Identifizierung neuer EDC-Gene durch subtraktive Hybridisierung 70 2.1 Eine direkte Methode zur Identifizierung neuer Gene 71 2.2 Hybridisierung der feingerasterten cDNA-Bibliothek mit einem YAC 71 2.3 Auswertung der Hybridisierung 72 2.4 Hybridisierung der feingerasterten cDNA-Bibliothek mit einem zweiten YAC 75 2.5 Subtraktive Auswertung 75 2.6 Hybridisierungsergebnisse zweier weiterer YACs aus der centromeren Region 78 2.7 Mögliche Fehlerquellen und ihre Vermeidung 78 3 Kartierung der neuen EDC-Gene 79 3.1 YAC-Restriktionskarte 80 3.2 Genomische Restriktionskarte 85 3.3 Fusion der physikalischen Karten 88 3.4 Integration der genetischen Marker 88 4 Charakterisierung der cDNA-Sequenzen 90 4.1 Ermittlung der cDNA-Sequenzen 91 4.2 cDNA-Sequenzen bekannter EDC-Gene 91 4.3 cDNA-Sequenzen anderer bekannter Proteine 94 4.4 cDNA-Sequenzen unbekannter Funktion 94 IV DISKUSSION 102 1 Die Ressourcen 102 1.1 Das YAC-Contig des EDC 102 1.2 Die feingerasterte Keratinozyten-cDNA-Bibliothek 104 2 Die Hybridisierungsmethode 106 3 Die integrierte Karte der Region 1q21 108 4 Die neuen EDC-Gene 109 5 Der Genkomplex 116 5.1 EDC oder "CDC"? 116 5.2 Kontrolle der Genexpression 117 5.3 Orthologie im Mausgenom - der EDC der Maus 119 5.4 Paralogie im menschlichen Genom 121 6 Ausblicke 124 Va ZUSAMMENFASSUNG 126 Vb SUMMARY 128 Literaturverzeichnis 130 Publikationsliste 149, In den letzten Jahren wurden auf dem langen Arm von Chromosom 1 des Menschen drei strukturell verwandte Genfamilien lokalisiert, die für die Ausbildung einer intakten Epidermis von entscheidender Bedeutung sind. Sie codieren sowohl strukturgebende als auch regulatorisch wirkende Proteine, die während der Differenzierung der Epidermis funktionell zusammenspielen. Die koordinierte Expression der Gene führte in Verbindung mit ihrer Anordnung innerhalb eines eng begrenzten Bereichs der Region 1q21 zur Definition eines neuen Genkomplexes, des Epidermalen Differenzierungskomplexes (EDC, epidermal differentiation complex). Zwei für die Charakterisierung des EDC unverzichtbare Ressourcen wurden im Rahmen dieser Arbeit geschaffen. Als erstes ist das aus 24 YACs (yeast artificial chromosomes) bestehende Contig zu nennen, das sich über 6 Mb der Region 1q21 erstreckte. Insgesamt 43 Genmarker, 20 neue, 1q21-spezifische Hybridisierungsmarker und sieben polymorphe STS (sequence-tagged site)-Marker wurden innerhalb des Contigs kartiert; bis auf zwei kleinere Abschnitte war die Region mindestens doppelt mit DNA-Klonen abgedeckt. Durch Zwei-Farben-FISH (Fluoreszenz-in situ-Hybridisierung) zweier, den EDC begrenzender, YACs wurde die Orientierung des Genkomplexes auf Chromosom 1 bestimmt. Um die Auflösung des Contigs zu erhöhen, wurde eine SalI-Restriktionskarte der YACs erstellt und, um die Ergebnisse zu verifizieren, zusätzlich eine genomische Restriktionskarte, die ca. 4,5 Mb der Region 1q21 umfaßte. Die Positionierung von sieben STS-Markern der genetischen Karte auf den YACs führte zur integrierten Karte der Region 1q21, die für Kopplungsanalysen besonders wertvoll ist. Für die Analyse der während der Differenzierung der Epidermis exprimierten Gene wurde das zweite Hilfsmittel angefertigt, eine feingerasterte cDNA-Bibliothek aus Keratinozyten unterschiedlicher Reifegrade. Diese war sowohl aufgrund ihrer Größe (10 Filter mit je 18432 doppelt aufgetragenen Klonen) als auch der enthaltenen cDNA- Sequenzen, die selbst späte Differenzierungsstadien einschlossen, einzigartig und ermöglichte die systematische und schnelle Analyse nahezu des gesamten bei der Keratinozytenreifung vorliegenden Transkriptoms. Für die Verwaltung der cDNA-Bibliothek wurde eine zentrale Datenbank angelegt, in der alle erzielten Ergebnisse gespeichert und ausgewertet wurden. Zusätzlich wurde eine Methode zur Genidentifizierung weiterentwickelt, die YACs als Sonden für die Hybridisierung einer cDNA-Bibliothek nutzt. Durch subtraktive Hybridisierung einer feingerasterten cDNA-Bibliothek mit nicht überlappenden YACs konnten zuvor beschriebene Probleme mit falsch positiven Klonen nahezu vollständig gelöst werden: Fast 90% der subtraktiv ausgewählten cDNA-Klone konnten im EDC kartiert werden. Die cDNA-Sequenzen repräsentierten 40 verschiedene Transkripte, die von 33 Genen stammten. Von diesen konnten 21 Gene erstmals dem EDC zugeordnet wurden: ADAR1, ANXA9, HAX1, LAMRL6, PIAS3, PIP5K1A, PSMB4, PSMD4, PSMD8L, RBM8 und TPM3 sowie zehn zuvor nicht charakterisierte Gene (NICE1 bis NICE10), von denen eines eine Homologie zum NOTCH2-Gen aufwies. Vier weitere Gene, CHRNB2, RPTN, S100A11 und TDRKH, wurden unabhängig von der subtraktiven Hybridisierung im EDC lokalisiert. Die bekannten Genfamilien des EDC konnten mit RPTN und S100A11 um zwei neue Mitglieder erweitert werden; außerdem wurde ein polymorphes Transkript des SPRR3-Gens identifiziert. Expressionsuntersuchungen und Sequenzanalysen des NICE1-Gens, das ebenfalls in der ursprünglichen EDC-Region kartiert, lassen eine neue, differenzierungsspezifisch exprimierte Genfamilie innerhalb des EDC vermuten. Durch die Zuordnung der entsprechenden Gene im Mausgenom konnte eine orthologe Kopplungsgruppe auf dem Mauschromosom 3 belegt werden. Ebenso konnten paraloge Regionen auf den Chromosomen 1, 6, 9 und 19 im menschlichen Genom aufgezeigt werden. Darüberhinaus bestätigen vier neue EDC-Gene, denen homologe Gene auf dem langen Arm von Chromosom 15 zugeordnet werden konnten, Hinweise auf eine fünfte paraloge Region - ein weiterer Schritt zur Aufklärung der Chromosomenentwicklung. Der EDC konnte als Ergebnis dieser Arbeit von 2 auf 6 Mb ausgedehnt werden, innerhalb der jetzt 52 Gene kartieren, von denen fast alle in Keratinozyten exprimiert werden und die somit potentiell am Aufbau der Epidermis beteiligt sind. Da die Transkriptionsanalyse der Region nicht erschöpfend durchgeführt wurde, wird ihre Zahl voraussichtlich noch zunehmen. Auch ist die tatsächliche Ausdehnung des EDC auf Chromosom 1 noch unbekannt, so daß weitere Analysen dieser außergewöhnlichen Region des menschlichen Genoms erstrebenswert sind., In recent years, three structurally related gene families which are important for the formation of a functional epidermis were localized to the long arm of human chromosome 1. They encode structural as well as regulatory proteins which cooperate during epidermal differentiation. Coordinated expression and the close linkage of the genes in chromosomal region 1q21 lead to the definition of a new gene complex, the epidermal differentiation complex (EDC). Two resources essential for the characterization of the EDC were generated within this study. To examine the genomic organization of the EDC, a contig of 24 yeast artificial chromosomes (YACs) covering 6 Mb of region 1q21 was assembled. A total of 43 genes, 20 newly generated hybridization markers, and seven polymorphic sequence-tagged site (STS)-markers were mapped within the contig. Except for two smaller DNA segments all of these loci were at least doubly linked. To achieve a higher resolution, a SalI restriction map of the YAC contig was generated and, to verify the mapping results, a genomic restriction map covering approximately 4,5 Mb of region 1q21. Using two YACs flanking the EDC as probes for dual colour fluorescence in situ hybridization (FISH) the chromosomal orientation of the gene complex was determined. The positioning of seven STS-markers yielded an integrated map of region 1q21 as a valuable tool for linkage analyses. For the transcriptional analysis of genes involved in epidermal differentiation a gridded cDNA library synthesized from differentiating keratinocytes was constructed. This library was unique in terms of its size (10 filters carrying 18432 doubly spotted clones each) and the included transcripts which even covered late stages of differentiation and enabled rapid and systematic investigations of the whole keratinocyte transcriptome. In addition, a database for the management of the cDNA library was developed. Furthermore, a gene identification method using YACs as probes to screen a cDNA library was improved. The subtractive hybridization of a gridded cDNA library with non overlapping YACs resolved nearly all problems with non specific hybridization previously described; approximately 90% of the subtractively selected cDNA clones could be mapped within the EDC. The cDNA sequences represented 40 different transcripts originating from 33 genes. Of these 21 genes were newly assigned to the EDC: ADAR1, ANXA9, HAX1, LAMRL6, PIAS3, PIP5K1A, PSMB4, PSMD4, PSMD8L, RBM8, and TPM3, as well as ten previously uncharacterized genes (NICE1 to NICE10), one of which was homologous to NOTCH2. Four additional genes, CHRNB2, RPTN, S100A11, and TDRKH, were localized within the EDC independently of the subtractive hybridization. The established gene families of the EDC were extended by two new members, RPTN and S100A11, and a polymorphic transcript of the SPRR3 gene was identified. Expression and sequence analyses of NICE1 mapping as well within the core region of the EDC suggested the existence of a new, differentiation- specifically expressed gene family. The recognition of the corresponding genes in the mouse genome verified an orthologous linkage group on mouse chromosome 3. Likewise, paralogous regions on human chromosomes 1, 6, 9, and 19 were confirmed. Moreover, four of the newly assigned EDC genes have homologues on the long arm of chromosome 15, indicating a fifth paralogous region; a further step in the elucidation of the evolution of chromosomes. As a result of this study the EDC has been extended from 2 to 6 Mb, now including 52 genes which are almost completely expressed in keratinocytes and therefore potentially contribute to the formation of the epidermis. Because the transcriptional analysis was not performed exhaustively, the number of genes should still increase. Moreover, the extension of the EDC on chromosome 1 is still unknown, making further investigations of this remarkable region of the human genome desirable.
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- 2002
45. High-density genotyping study identifies four new susceptibility loci for atopic dermatitis
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Ellinghaus, David, primary, Baurecht, Hansjörg, additional, Esparza-Gordillo, Jorge, additional, Rodríguez, Elke, additional, Matanovic, Anja, additional, Marenholz, Ingo, additional, Hübner, Norbert, additional, Schaarschmidt, Heidi, additional, Novak, Natalija, additional, Michel, Sven, additional, Maintz, Laura, additional, Werfel, Thomas, additional, Meyer-Hoffert, Ulf, additional, Hotze, Melanie, additional, Prokisch, Holger, additional, Heim, Katharina, additional, Herder, Christian, additional, Hirota, Tomomitsu, additional, Tamari, Mayumi, additional, Kubo, Michiaki, additional, Takahashi, Atsushi, additional, Nakamura, Yusuke, additional, Tsoi, Lam C, additional, Stuart, Philip, additional, Elder, James T, additional, Sun, Liangdan, additional, Zuo, Xianbo, additional, Yang, Sen, additional, Zhang, Xuejun, additional, Hoffmann, Per, additional, Nöthen, Markus M, additional, Fölster-Holst, Regina, additional, Winkelmann, Juliane, additional, Illig, Thomas, additional, Boehm, Bernhard O, additional, Duerr, Richard H, additional, Büning, Carsten, additional, Brand, Stephan, additional, Glas, Jürgen, additional, McAleer, Maeve A, additional, Fahy, Caoimhe M, additional, Kabesch, Michael, additional, Brown, Sara, additional, McLean, W H Irwin, additional, Irvine, Alan D, additional, Schreiber, Stefan, additional, Lee, Young-Ae, additional, Franke, Andre, additional, and Weidinger, Stephan, additional
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- 2013
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46. Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema
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Marenholz, Ingo, primary, Gimenez Rivera, Vladimir A., additional, Esparza-Gordillo, Jorge, additional, Bauerfeind, Anja, additional, Lee-Kirsch, Min-Ae, additional, Ciechanowicz, Andrzej, additional, Kurek, Michael, additional, Piskackova, Tereza, additional, Macek, Milan, additional, and Lee, Young-Ae, additional
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- 2011
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47. Genome-wide approaches to the etiology of eczema
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Esparza-Gordillo, Jorge, primary, Marenholz, Ingo, additional, and Lee, Young-Ae, additional
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- 2010
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48. A common variant on chromosome 11q13 is associated with atopic dermatitis
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Esparza-Gordillo, Jorge, primary, Weidinger, Stephan, additional, Fölster-Holst, Regina, additional, Bauerfeind, Anja, additional, Ruschendorf, Franz, additional, Patone, Giannino, additional, Rohde, Klaus, additional, Marenholz, Ingo, additional, Schulz, Florian, additional, Kerscher, Tamara, additional, Hubner, Norbert, additional, Wahn, Ulrich, additional, Schreiber, Stefan, additional, Franke, Andre, additional, Vogler, Rainer, additional, Heath, Simon, additional, Baurecht, Hansjörg, additional, Novak, Natalija, additional, Rodriguez, Elke, additional, Illig, Thomas, additional, Lee-Kirsch, Min-Ae, additional, Ciechanowicz, Andrzej, additional, Kurek, Michael, additional, Piskackova, Tereza, additional, Macek, Milan, additional, Lee, Young-Ae, additional, and Ruether, Andreas, additional
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- 2009
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49. Variants in a Novel Epidermal Collagen Gene (COL29A1) Are Associated with Atopic Dermatitis
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Söderhäll, Cilla, primary, Marenholz, Ingo, additional, Kerscher, Tamara, additional, Rüschendorf, Franz, additional, Esparza-Gordillo, Jorge, additional, Worm, Margitta, additional, Gruber, Christoph, additional, Mayr, Gabriele, additional, Albrecht, Mario, additional, Rohde, Klaus, additional, Schulz, Herbert, additional, Wahn, Ulrich, additional, Hubner, Norbert, additional, and Lee, Young-Ae, additional
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- 2007
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50. An update of the S100 nomenclature
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Marenholz, Ingo, primary, Lovering, Ruth C., additional, and Heizmann, Claus W., additional
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- 2006
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