| Literature DB >> 19464849 |
Amr H Sawalha1, John B Harley, R Hal Scofield.
Abstract
Similar to other autoimmune diseases, systemic lupus erythematosus (SLE) predominately affects women. Recent reports demonstrate excess Klinefelter's among men with SLE and a possible under-representation of Turner's syndrome among women with SLE as well as a case report of a 46,XX boy with SLE. These data suggest that risk of SLE is related to a gene dose effect for the X chromosome. Such an effect could be mediated by abnormal inactivation of genes on the X chromosome as has been demonstrated for CD40L, or by genetic polymorphism as has been demonstrated for Xq28. On the other hand, a gene dose effect could also be mediated by a gene without an SLE-associated polymorphism in that a gene that avoids X inactivation will have a higher level of expression in persons with two X chromosomes.Entities:
Mesh：
Substances：
Year: 2009 PMID： 19464849 PMCID： PMC2885450 DOI： 10.1016/j.jaut.2009.03.006
Source DB: PubMed Journal: J Autoimmun ISSN： 0896-8411 Impact factor: 7.094