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Semin Nephrol. 2010 Mar;30(2):164-76. doi: 10.1016/j.semnephrol.2010.01.007.

Genetic factors predisposing to systemic lupus erythematosus and lupus nephritis.

Author information

1
Section on Statistical Genetics and Bioinformatics, Division of Public Health Sciences, Department of Biostatistical Sciences and Center for Public Health Genomics, Wake Forest University Health Sciences, Winston-Salem, NC 27157, USA. pramos@wfubmc.edu

Abstract

Systemic lupus erythematosus (SLE) is a chronic inflammatory disease characterized by a loss of tolerance to self-antigens and the production of high titers of serum autoantibodies. Lupus nephritis can affect up to 74% of SLE patients, particularly those of Hispanic and African ancestries, and remains a major cause of morbidity and mortality. A genetic etiology in SLE is now well substantiated. Thanks to extensive collaborations, extraordinary progress has been made in the past few years and the number of confirmed genes predisposing to SLE has catapulted to approximately 30. Studies of other forms of genetic variation, such as copy number variants and epigenetic alterations, are emerging and promise to revolutionize our knowledge about disease mechanisms. However, to date little progress has been made on the identification of genetic factors specific to lupus nephritis. On the near horizon, two large-scale efforts, a collaborative meta-analysis of lupus nephritis based on all genome-wide association data in Caucasians and parallel scans in four other ethnicities, are poised to make fundamental discoveries in the genetics of lupus nephritis. Collectively, these findings will show that a broad array of pathways underlines the genetic heterogeneity of SLE and lupus nephritis, and provide potential avenues for the development of novel therapies.

PMID:
20347645
PMCID:
PMC2847514
DOI:
10.1016/j.semnephrol.2010.01.007
[Indexed for MEDLINE]
Free PMC Article

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