Using functional genomics to advance the understanding of psoriatic arthritis.
Using functional genomics to advance the understanding of psoriatic arthritis.
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使用功能基因组学来提高对银屑病关节炎的理解。
DOI：
10.1093/rheumatology/keaa283
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发表时间：
2020-11-01
期刊：
影响因子：
--
通讯作者：
Orozco G
中科院分区：
文献类型：
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作者：
Shi C;Rattray M;Barton A;Bowes J;Orozco G
银屑病关节炎（PsA）是一种复杂的疾病，其易感性由遗传和环境风险因素决定。临床上，PsA涉及关节和皮肤的炎症，如果不及时治疗，会导致不可逆的关节损伤。目前还没有治愈的方法，少数可以缓解症状的治疗方法并不是对所有患者都有效。在过去的十年中，全基因组关联研究（GWAS）已经发现了大量的疾病相关基因座，但将这些发现转化为功能机制和新的治疗靶点并不简单。据预测，大多数变异主要影响远程调控区域，如增强子。现在有令人信服的证据支持使用染色质构象分析方法来发现可能受疾病相关变异影响的新基因。在这里，我们将回顾该领域发表的研究，这些研究使我们对功能基因组学背景下的基因调控有了新的认识，以及这与PsA及其潜在疾病机制的研究之间的关系。
Psoriatic arthritis (PsA) is a complex disease where susceptibility is determined by genetic and environmental risk factors. Clinically, PsA involves inflammation of the joints and the skin, and, if left untreated, results in irreversible joint damage. There is currently no cure and the few treatments available to alleviate symptoms do not work in all patients. Over the past decade, genome-wide association studies (GWAS) have uncovered a large number of disease-associated loci but translating these findings into functional mechanisms and novel targets for therapeutic use is not straightforward. Most variants have been predicted to affect primarily long-range regulatory regions such as enhancers. There is now compelling evidence to support the use of chromatin conformation analysis methods to discover novel genes that can be affected by disease-associated variants. Here, we will review the studies published in the field that have given us a novel understanding of gene regulation in the context of functional genomics and how this relates to the study of PsA and its underlying disease mechanism.
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遗传对人体组织基因表达的影响。
影响因子：
64.8
作者：
GTEx Consortium;Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group;Statistical Methods groups—Analysis Working Group;Enhancing GTEx (eGTEx) groups;NIH Common Fund;NIH/NCI;NIH/NHGRI;NIH/NIMH;NIH/NIDA;Biospecimen Collection Source Site—NDRI;Biospecimen Collection Source Site—RPCI;Biospecimen Core Resource—VARI;Brain Bank Repository—University of Miami Brain Endowment Bank;Leidos Biomedical—Project Management;ELSI Study;Genome Browser Data Integration &Visualization—EBI;Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz;Lead analysts:;Laboratory, Data Analysis &Coordinating Center (LDACC):;NIH program management:;Biospecimen collection:;Pathology:;eQTL manuscript working group:;Battle A;Brown CD;Engelhardt BE;Montgomery SB
通讯作者：
Montgomery SB
影响因子：
12.3
作者：
Burren OS;Rubio García A;Javierre BM;Rainbow DB;Cairns J;Cooper NJ;Lambourne JJ;Schofield E;Castro Dopico X;Ferreira RC;Coulson R;Burden F;Rowlston SP;Downes K;Wingett SW;Frontini M;Ouwehand WH;Fraser P;Spivakov M;Todd JA;Wicker LS;Cutler AJ;Wallace C
通讯作者：
Wallace C
影响因子：
17.1
作者：
Finan C;Gaulton A;Kruger FA;Lumbers RT;Shah T;Engmann J;Galver L;Kelley R;Karlsson A;Santos R;Overington JP;Hingorani AD;Casas JP
通讯作者：
Casas JP
影响因子：
7
作者：
Boyle AP;Hong EL;Hariharan M;Cheng Y;Schaub MA;Kasowski M;Karczewski KJ;Park J;Hitz BC;Weng S;Cherry JM;Snyder M
通讯作者：
Snyder M
影响因子：
30.8
作者：
通讯作者：
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