Research article
The CD45 77C/G allele is not associated with myasthenia gravis - a reassessment of the potential role of CD45 in autoimmunity
1 Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE-141 86 Stockholm, Sweden
2 Department of Neurology, Karolinska University Hospital Solna, SE-171 76 Stockholm, Sweden
BMC Research Notes 2010, 3:292 doi:10.1186/1756-0500-3-292
Published: 10 November 2010Abstract
Background
The G allele of the CD45 77C/G SNP (rs17612648), which has previously been suggested to be associated with autoimmune disorders, was genotyped in 446 Swedish myasthenia gravis (MG) patients and 2303 matched controls.
Results
There was no association between the polymorphism and patient group as a whole (p = 0.199), nor with clinical subgroups. Our results add to a growing number of studies unable to find association between the 77C/G polymorphism and autoimmune disorders. One control sample, from an adult blood donor, was homozygous for the G allele, yet negative for a panel of auto-antibodies, representing the first homozygous individual studied in this respect.
Conclusions
The 77C/G mutation does not predispose to MG, and its role in autoimmunity may have to be re-evaluated.
