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系统性红斑狼疮和干燥综合征的遗传学研究进展。

Genetics of systemic lupus erythematosus and Sjögren's syndrome: an update.

机构信息

aGENYO, Center for Genomics and Oncological Research Pfizer/University of Granada/Andalusian Regional Government, Parque Tecnológico de la Salud, Granada, Spain bUnit of Chronic Inflammatory Diseases, Institute for Environmental Medicine IMM, Karolinska Institutet, Solna, Sweden.

出版信息

Curr Opin Rheumatol. 2016 Sep;28(5):506-14. doi: 10.1097/BOR.0000000000000310.

Abstract

PURPOSE OF REVIEW

To describe the recent studies on the genetics of systemic lupus erythematosus (SLE) and Sjögren's syndrome.

RECENT FINDINGS

We overview the most recent findings on the genetic susceptibility of the diseases and provide information on their genetic similarities and differences.

SUMMARY

SLE and Sjögren's syndrome are two closely related systemic autoimmune diseases that share multiple clinical and molecular aspects, including a significant number of susceptibility genes. Several genome-wide association studies were recently published in different populations that provide a better picture of their molecular mechanisms. It is becoming clear that their genetic architecture is quite well established, but more information is required on expression quantitative trait loci, epigenetic genome-wide analyses, gene × gene interactions and the role of rare variants.

摘要

目的综述

描述系统性红斑狼疮(SLE)和干燥综合征的遗传学研究进展。

最近的发现

我们综述了这些疾病遗传易感性的最新发现,并提供了有关其遗传相似性和差异性的信息。

总结

SLE 和干燥综合征是两种密切相关的系统性自身免疫性疾病,具有许多共同的临床和分子特征,包括许多易感基因。最近在不同人群中发表了几项全基因组关联研究,为其分子机制提供了更清晰的认识。越来越清楚的是,它们的遗传结构已经相当确定,但还需要更多关于表达数量性状基因座、表观基因组全分析、基因×基因相互作用以及罕见变异体作用的信息。

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