Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.

  title={Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.},
  author={Robert R. Graham and Chieko Kyogoku and Snaevar Sigurdsson and Irina A. Vlasova and Leela R L Davies and Emily C. Baechler and Robert M. Plenge and Thearith Koeuth and Ward A. Ortmann and Geoffrey Hom and Jason W. Bauer and Clarence Gillett and No{\"e}l P. Burtt and Deborah S Cunninghame Graham and Robert C. Onofrio and Michelle Petri and Iva Gunnarsson and Elisabet Svenungsson and Lars R{\"o}nnblom and Gunnel Nordmark and Peter K. Gregersen and Kathy L. Moser and Patrick M Gaffney and Lindsey A. Criswell and Timothy J Vyse and Ann-Christine Syv{\"a}nen and Paul R Bohjanen and Mark J. Daly and Timothy W. Behrens and David Altshuler},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  volume={104 16},
Systematic genome-wide studies to map genomic regions associated with human diseases are becoming more practical. Increasingly, efforts will be focused on the identification of the specific functional variants responsible for the disease. The challenges of identifying causal variants include the need for complete ascertainment of genetic variants and the need to consider the possibility of multiple causal alleles. We recently reported that risk of systemic lupus erythematosus (SLE) is strongly… CONTINUE READING
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