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NEJM editorial on significance and limitations of new lupus gene expression research
Date:1/20/2008

Some 1.5 million Americans, most of them women, suffer from lupus, a disease where the persons immune system attacks the bodys own tissue. This week marks a significant step forward in understanding how the disease works with the online publication of four new studies identifying genes involved in this often debilitating chronic disease.

Mary K.Crow, M.D., associate chief of the division of Rheumatology and director of Rheumatology research at Hospital for Special Surgery in New York, has written an editorial in The New England Journal of Medicine to accompany the papers. One study appears in The New England Journal of Medicine and the other three appear in Nature Genetics, all to be published online on Jan. 20. In her editorial, Dr. Crow talks about the importance of the studies and the questions they leave unanswered, along with insights on next steps in lupus research.

Overall, these papers confirm what investigators have been finding over the past decades, says Dr. Crow, the co-director of the Mary Kirkland Center for Lupus Research and director of the Autoimmunity and Inflammation Research Program at Hospital for Special Surgery. They show that many aspects of the immune system are involved in the development of the disease, but they also provide a new level of detail regarding the specific molecular pathways that contribute.

The new research looks at how variations in a single DNA base pair, called single nucleotide polymorphisms (SNP), can be used to identify genetic variations among individuals that are associated with a diagnosis of lupus. In some cases, the SNPs call attention to important genes but have no apparent functional importance themselves. In other cases, the variations might actually change the protein product so that it functions differently in lupus patients and healthy individuals. For example, in one specific gene the frequency of an A nucleotide in people with lupus might be significantly greater than in hea
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Contact: Phyllis Fisher
fisherp@hss.edu
212-606-1197
Hospital for Special Surgery
Source:Eurekalert

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