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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
- 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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