Purpose: Identify genes associated with ocular sarcoidosis (OS). Methods: We genotyped 1.1 million genetic variants to identify significant OS associations, defined as those that achieved p < 5 × 10-8 in a genome-wide comparison of OS cases to healthy controls in our European- or African-American cohorts (EA, AA). Potential functional roles of all associated variants were assessed. Results: Eight significant non-HLA variants were found in AA OS cases compared to healthy controls and confirmed as at least suggestive when comparing OS to non-OS cases. Seven of these were within MAGI1 and include transcription factor binding sites and expression quantitative trait loci. Our EA cohort, while showing similar effect sizes at variants within MAGI1, had no significant variants. Association analysis of HLA-DRB1 alleles confirmed association to OS in EA to *04:01. Conclusion: Our results support organ-specific genetic risk in OS in a compelling candidate, MAGI1, known to be associated with barrier function and autoimmunity.
Purpose: Identify genes associated with ocular sarcoidosis (OS). Methods: We genotyped 1.1 million genetic variants to identify significant OS associations, defined as those that achieved p < 5 × 10-8 in a genome-wide comparison of OS cases to healthy controls in our European- or African-American cohorts (EA, AA). Potential functional roles of all associated variants were assessed. Results: Eight significant non-HLA variants were found in AA OS cases compared to healthy controls and confirmed as at least suggestive when comparing OS to non-OS cases. Seven of these were within MAGI1 and include transcription factor binding sites and expression quantitative trait loci. Our EA cohort, while showing similar effect sizes at variants within MAGI1, had no significant variants. Association analysis of HLA-DRB1 alleles confirmed association to OS in EA to *04:01. Conclusion: Our results support organ-specific genetic risk in OS in a compelling candidate, MAGI1, known to be associated with barrier function and autoimmunity.
Authors: Ghalib A Bello; Indra Adrianto; Gerard G Dumancas; Albert M Levin; Michael C Iannuzzi; Benjamin A Rybicki; Courtney Montgomery Journal: Am J Respir Crit Care Med Date: 2015-11-01 Impact factor: 21.405
Authors: So-Youn Shin; Ann-Kristin Petersen; Nicole Soranzo; Christian Gieger; Karsten Suhre; Robert P Mohney; David Meredith; Brigitte Wägele; Elisabeth Altmaier; Panos Deloukas; Jeanette Erdmann; Elin Grundberg; Christopher J Hammond; Martin Hrabé de Angelis; Gabi Kastenmüller; Anna Köttgen; Florian Kronenberg; Massimo Mangino; Christa Meisinger; Thomas Meitinger; Hans-Werner Mewes; Michael V Milburn; Cornelia Prehn; Johannes Raffler; Janina S Ried; Werner Römisch-Margl; Nilesh J Samani; Kerrin S Small; H-Erich Wichmann; Guangju Zhai; Thomas Illig; Tim D Spector; Jerzy Adamski Journal: Nature Date: 2011-08-31 Impact factor: 49.962
Authors: Milton D Rossman; Bruce Thompson; Margaret Frederick; Mary Maliarik; Michael C Iannuzzi; Benjamin A Rybicki; Janardan P Pandey; Lee S Newman; Eleni Magira; Bojana Beznik-Cizman; Dimitri Monos Journal: Am J Hum Genet Date: 2003-08-20 Impact factor: 11.025
Authors: Jie Ni; Sujin Bao; Ruth I Johnson; Bingbing Zhu; Jianhua Li; Justin Vadaparampil; Christopher M Smith; Kirk N Campbell; Florian Grahammer; Tobias B Huber; John C He; Vivette D D'Agati; Andrew Chan; Lewis Kaufman Journal: J Biol Chem Date: 2016-10-05 Impact factor: 5.157
Authors: João Paulo Kazmierczak de Camargo; Giovanna Nazaré de Barros Prezia; Naoye Shiokawa; Mario Teruo Sato; Roberto Rosati; Angelica Beate Winter Boldt Journal: Front Genet Date: 2022-05-17 Impact factor: 4.772