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Curr Rheumatol Rep. 2017 Oct 5;19(11):68. doi: 10.1007/s11926-017-0695-z.

Updates in Lupus Genetics.

Author information

1
Division of Rheumatology & Immunology, Medical University of South Carolina, 96 Jonathan Lucas Street, Clinical Science Building Suite 936C, Charleston, SC, 29425, USA.
2
Division of Rheumatology & Immunology, Medical University of South Carolina, 96 Jonathan Lucas Street, Clinical Science Building Suite 936C, Charleston, SC, 29425, USA. tsaob@musc.edu.

Abstract

PURPOSE OF REVIEW:

Our understanding on genetic basis of SLE has been advanced through genome-wide association studies. We review recent progress in lupus genetics with a focus on SLE-associated loci that have been functionally characterized, and discuss the potential for clinical translation of genetics data.

RECENT FINDINGS:

Over 100 loci have been confirmed to show robust association with SLE and many share with other immune-mediated diseases. Although causative variants captured at these established loci are limited, they guide biological studies of gene targets for functional characterization which highlight the importance of aberrant recognition of self-nucleic acid, type I interferon overproduction, and defective immune cell signaling underlying the pathogenesis of SLE. Increasing examples illustrate a predictive value of genetic findings in susceptibility/prognosis prediction, clinical classification, and pharmacological implication. Genetic findings provide a foundation for better understanding of disease pathogenic mechanisms and opportunities for target selection in lupus drug development.

KEYWORDS:

Causative variant; Genetics; Molecular pathways; Systemic lupus erythematous

PMID:
28983873
DOI:
10.1007/s11926-017-0695-z
[Indexed for MEDLINE]

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