Human Molecular Genetics Advance Access originally published online on April 6, 2005
Human Molecular Genetics 2005 14(10):1305-1314; doi:10.1093/hmg/ddi141
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Shared gene expression profiles in individuals with autoimmune disease and unaffected first-degree relatives of individuals with autoimmune disease
1Division of Rheumatology, Department of Medicine, 2Department of Microbiology and Immunology and 3Department of Biostatistics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
* To whom correspondence should be addressed at: MCN T3219, Vanderbilt University Medical Center, 1161 21st Avenue South, Nashville, TN 37232, USA. Tel: +1 6153437353; Fax: +1 6153226248; Email: thomas.aune{at}vanderbilt.edu
Received January 11, 2005; Accepted March 22, 2005
Patients with autoimmune disorders exhibit highly reproducible gene expression profiles in their peripheral blood mononuclear cells. These signatures may result from chronic inflammation, other disease manifestations, or may reflect family resemblance. To test the latter hypothesis, we determined gene expression profiles in unaffected first-degree relatives of individuals with autoimmune disease. Gene expression profiles in unaffected first-degree relatives resembled the profiles found in individuals with autoimmune diseases. A high percentage of differentially expressed genes in unaffected first-degree relatives were previously identified as autoimmune signature genes. Examination of the linear regression relationship of gene transcript levels between parentoffspring pairs revealed that autoimmune signature genes display high levels of family resemblance. Taken together, these results support the hypothesis that these variations in gene transcript levels are associated with family resemblance rather than clinical manifestations of disease.
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