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Genetics of systemic lupus erythematosus and Sjogrens syndrome
Current Opinion in Rheumatology, 08/17/09

Scofield RH - Review attempts to highlight the fact that knowledge of genetics of systemic lupus erythematosus (SLE) is advancing rapidly, whereas that of Sjögren's syndrome lags behind considerably.

Methods

Aim was to determine the advances made in the genetics of SLE or Sjögren's syndrome as the era of genome-wide association and high-throughput single nucleotide typing begins

Results

Several genome-wide association studies have been performed in SLE but none for Sjögren's syndrome
Genetics and the functional significance of risk alleles in the interferon pathway, particularly STAT4 and IRF5 are being worked out in detail
Gene copy number variation, a major source of genetic variability, is important for several genes that impart risk for SLE
An X chromosome copy number dose effect has recently been identified
Genetic evaluation of Sjögren's syndrome is limited to small studies that have concentrated on genes already shown to be risk factors in SLE

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