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Advances in lupus genetics

Boackle, Susan A.

doi: 10.1097/BOR.0b013e328363eb4e

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.

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

Correspondence to Susan A. Boackle, MD, Division of Rheumatology, Departments of Medicine and Immunology, University of Colorado School of Medicine, 1775 Aurora Court, Room 3102B, Mail Stop B115, Aurora, CO 80045, USA. Tel: +1 303 724 7605; e-mail:

© 2013 Lippincott Williams & Wilkins, Inc.