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Meta-analyses uncover the genetic architecture of Idiopathic Inflammatory Myopathies
Arthritis & Rheumatology ( IF 11.4 ) Pub Date : 2024-12-16 , DOI: 10.1002/art.43088 Catherine Zhu, Younghun Han, Jinyoung Byun, Xiangjun Xiao, Simon Rothwell, Frederick W. Miller, Ingrid E. Lundberg, Peter K. Gregersen, Jiri Vencovsky, Vikram R. Shaw, Neil McHugh, Vidya Limaye, Albert Selva-O'Callaghan, Michael G. Hanna, Pedro M. Machado, Lauren M. Pachman, Ann M. Reed, Lisa G. Rider, Øyvind Molberg, Olivier Benveniste, Timothy Radstake, Andrea Doria, Jan L. De Bleecker, Boel De Paepe, Britta Maurer, William E. Ollier, Leonid Padyukov, Lucy R. Wedderburn, Hector Chinoy, Janine A. Lamb, Christopher I. Amos
Arthritis & Rheumatology ( IF 11.4 ) Pub Date : 2024-12-16 , DOI: 10.1002/art.43088 Catherine Zhu, Younghun Han, Jinyoung Byun, Xiangjun Xiao, Simon Rothwell, Frederick W. Miller, Ingrid E. Lundberg, Peter K. Gregersen, Jiri Vencovsky, Vikram R. Shaw, Neil McHugh, Vidya Limaye, Albert Selva-O'Callaghan, Michael G. Hanna, Pedro M. Machado, Lauren M. Pachman, Ann M. Reed, Lisa G. Rider, Øyvind Molberg, Olivier Benveniste, Timothy Radstake, Andrea Doria, Jan L. De Bleecker, Boel De Paepe, Britta Maurer, William E. Ollier, Leonid Padyukov, Lucy R. Wedderburn, Hector Chinoy, Janine A. Lamb, Christopher I. Amos
Idiopathic inflammatory myopathies (myositis, IIMs) are rare, systemic autoimmune disorders that lead to muscle inflammation, weakness, and extra-muscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome-wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome-wide myositis studies and analyzed the largest myositis dataset to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.
中文翻译:
荟萃分析揭示了特发性炎性肌病的遗传结构
特发性炎症性肌病(肌炎,IIMs)是罕见的系统性自身免疫性疾病,可导致肌肉炎症、无力和肌外表现,具有很强的遗传成分影响疾病的发展和进展。以前的全基因组关联研究确定了与 IIMs 相关的基因座。在这项研究中,我们估算了来自先前两项全基因组肌炎研究的数据,并分析了迄今为止最大的肌炎数据集,以确定与 IIMs 及其临床亚型相关的新风险位点和易感基因。
更新日期:2024-12-16
中文翻译:
荟萃分析揭示了特发性炎性肌病的遗传结构
特发性炎症性肌病(肌炎,IIMs)是罕见的系统性自身免疫性疾病,可导致肌肉炎症、无力和肌外表现,具有很强的遗传成分影响疾病的发展和进展。以前的全基因组关联研究确定了与 IIMs 相关的基因座。在这项研究中,我们估算了来自先前两项全基因组肌炎研究的数据,并分析了迄今为止最大的肌炎数据集,以确定与 IIMs 及其临床亚型相关的新风险位点和易感基因。