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Prepublished online as a Blood First Edition Paper on September 12, 2002; DOI 10.1182/blood-2002-04-1003.
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Blood, 1 February 2003, Vol. 101, No. 3, pp. 992-997
IMMUNOBIOLOGY
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
From the Arthritis and Immunology Program, Oklahoma
Medical Research Foundation, Oklahoma City; W. K. Warren Medical
Research Institute, Oklahoma City; Department of Veterans Affairs
Medical Center and the Department of Medicine, University of Oklahoma
Health Sciences Center, Oklahoma City.
Systemic lupus erythematosus (SLE) 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, < 10 × 109/L
[< 100 000/µL]) from a collection of 184 pedigrees multiplex for
SLE. Linkages were established at 1q22-23 (maximum logarithm of
odds [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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