Rheumatology Advance Access originally published online on July 8, 2008
Rheumatology 2008 47(11):1603-1611; doi:10.1093/rheumatology/ken247
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The genetics of SLE: an update in the light of genome-wide association studies
1Section of Molecular Genetics and Rheumatology, Division of Medicine, Imperial College London, London, UK.
Correspondence to: T. J. Vyse, Section of Molecular Genetics of Rheumatology, Faculty of Medicine, Imperial College London, Du Cane Road, London W12 0NN, UK. E-mail: t.vyse{at}imperial.ac.uk
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Abstract |
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Understanding the pathogenesis of SLE remains a considerable challenge. Multiple abnormalities of both the innate and adaptive immune system have been described and, furthermore, immunological dysfunction precedes clinical presentation by many years. There is a strong genetic basis to SLE, which means that genetic studies can play a key role in furthering our understanding of this disease. Since susceptibility variants are present from birth and are unaffected by the course of the disease, or by its treatment, genetic analysis is, perhaps uniquely, capable of identifying fundamental, causative, disease mechanisms. Over the last 12 months, there has been a staggering increase in our understanding of SLE genetics. We have seen the identification of new and important SLE susceptibility genes through candidate gene studies, and we have seen the publication of two whole-genome association analyses. The ‘hypothesis free’ whole-genome studies have provided additional evidence in support of a number of existing susceptibility genes and have identified novel gene candidates. In this article, we review the current SLE genetics literature in the light of these recent advances and we discuss our current understanding of the functional role of the key susceptibility genes. By considering how these genes fall into clusters with shared function we can begin to understand how dysregulation at a number of key immunological steps may predispose to the development of SLE.
KEY WORDS: Systemic lupus erythematosus, Genetics, Whole-genome association
Submitted 29 April 2008;
revised version accepted 6 June 2008.
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