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Prepublished online as a Blood First Edition Paper on September 12, 2002; DOI 10.1182/blood-2002-04-1003.
Submitted April 19, 2002
Accepted September 2, 2002
Thrombocytopenia identifies a severe familial phenotype of systemic lupus erythematosus and reveals genetic linkages at 1q22 and 11p13
R Hal Scofield*, Gail R Bruner, Jennifer A Kelly, Jeff Kilpatrick, Debra Bacino, Swapan K Nath, and John B Harley
Department of Arthritis and Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA; Department of Internal Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA; Department of Medicine, Department of Veterans Affairs Medicial Center, Oklahoma City, OK, USA
Department of Arthritis and Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA
Department of Arthritis and Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA; Department of Internal Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
* Corresponding author; email: hal-scofield{at}omrf.ouhsc.edu.
Systemic lupus erythematosus is a complicated autoimmune disease with a definite genetic predisposition. Thrombocytopenia predicts severe disease and death in SLE, making the identification of the related genetic risk factors especially important. We selected the 38 pedigrees that had an SLE patient with thrombocytopenia (platelets<100,000 per µl) from a collection of 184 pedigrees multiplex for SLE. Linkages were established at 1q22-23 (lodmax=3.71) in the 38 pedigrees and at 11p13 (lodmax = 5.72) in the 13 African-American pedigrees. Nephritis, serositis, neuropsychiatric involvement, autoimmune hemolytic anemia, anti-double stranded DNA and antiphospholipid antibody were associated with thrombocytopenia. Other results show that SLE is more severe in the families with a thrombocytopenic SLE patient, whether or not thrombocytopenia in an individual patient is considered. These results are consistent with thrombocytopenia being a component of a severe familial form of SLE and with genes at 1q22-23 and 11p13 contributing to this severe phenotype and to the subsequent high mortality associated with thrombocytopenia in SLE.
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