期刊
JOURNAL OF AUTOIMMUNITY
卷 33, 期 1, 页码 31-34出版社
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.jaut.2009.03.006
关键词
Systemic lupus erythematosus; Genetics; X chromosome
类别
资金
- NCRR NIH HHS [P20 RR020143, P20 RR015577-105543, P20 RR020143-07, P20 RR015577, P20 RR020143-06] Funding Source: Medline
- NIAID NIH HHS [R03 AI076729-01, R03 AI076729, R03 AI076729-02] Funding Source: Medline
- NIAMS NIH HHS [P30 AR053483] Funding Source: Medline
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. (C) 2009 Published by Elsevier Ltd.
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