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Advances in genetics toward identifying pathogenic cell states of rheumatoid arthritis.
Immunological Reviews ( IF 7.5 ) Pub Date : 2019-11-28 , DOI: 10.1111/imr.12827
Tiffany Amariuta 1, 2, 3, 4, 5 , Yang Luo 1, 2, 3, 4 , Rachel Knevel 2, 6 , Yukinori Okada 7, 8 , Soumya Raychaudhuri 1, 2, 3, 4, 9
Affiliation  

Rheumatoid arthritis (RA) risk has a large genetic component (~60%) that is still not fully understood. This has hampered the design of effective treatments that could promise lifelong remission. RA is a polygenic disease with 106 known genome-wide significant associated loci and thousands of small effect causal variants. Our current understanding of RA risk has suggested cell-type-specific contexts for causal variants, implicating CD4 + effector memory T cells, as well as monocytes, B cells and stromal fibroblasts. While these cellular states and categories are still mechanistically broad, future studies may identify causal cell subpopulations. These efforts are propelled by advances in single cell profiling. Identification of causal cell subpopulations may accelerate therapeutic intervention to achieve lifelong remission.

中文翻译:

鉴定类风湿关节炎病原细胞状态的遗传学进展。

类风湿关节炎(RA)的风险具有很大的遗传成分(〜60%),目前尚不完全清楚。这阻碍了可能有望终身缓解的有效治疗方法的设计。RA是一种多基因疾病,具有106个已知的全基因组显着相关基因座和数千个小影响因果变体。我们目前对RA风险的了解已提出了因果变异的特定细胞类型背景,涉及CD4 +效应记忆T细胞以及单核细胞,B细胞和基质成纤维细胞。尽管这些细胞状态和类别在机理上仍很广泛,但未来的研究可能会确定因果细胞亚群。这些努力是由单细胞分析的进展所推动的。病因细胞亚群的鉴定可以加速治疗干预,以实现终生缓解。
更新日期:2020-02-27
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