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狼疮遗传学的进展。

Advances in lupus genetics.

机构信息

Division of Rheumatology, University of Colorado School of Medicine, Aurora, Colorado 80045, USA.

出版信息

Curr Opin Rheumatol. 2013 Sep;25(5):561-8. doi: 10.1097/BOR.0b013e328363eb4e.

Abstract

PURPOSE OF REVIEW

The purpose of this review is to highlight recent progress in defining the effects of variation in the germline DNA sequence on the susceptibility to systemic lupus erythematosus.

RECENT FINDINGS

The genetic contributions to lupus susceptibility have been increasingly defined in recent years, although a large proportion of the genetic heritability of this disease remains undiscovered. Various approaches have been taken to determine this 'missing heritability' and to further characterize the known genetic effects in order to more fully elucidate the cause and pathogenesis of this complex and heterogenous disease.

SUMMARY

Characterizing the genetic contributions to lupus and their functional effects will advance our understanding of the biology of this disease and aid in the development of new therapeutics.

摘要

目的综述

本文旨在强调近年来在确定种系 DNA 序列变异对系统性红斑狼疮易感性的影响方面所取得的进展。

最近的发现

近年来,狼疮易感性的遗传贡献逐渐得到明确,但该疾病仍有很大一部分遗传可遗传性尚未发现。为了确定这部分“缺失的遗传率”并进一步描述已知的遗传效应,以更全面地阐明这种复杂和异质疾病的病因和发病机制,已经采取了各种方法。

总结

描述狼疮的遗传贡献及其功能影响将有助于我们深入了解该疾病的生物学特性,并有助于开发新的治疗方法。

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