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Updated: May 8, 2026
12:04
The bm12 Inducible Model of Systemic Lupus Erythematosus (SLE) in C57BL/6 Mice
Published on: November 1, 2015
Female polysomy-X and systemic lupus erythematosus
Mordechai Slae1, Merav Heshin-Bekenstein2, Ari Simckes2
1Department of Pediatrics, University of Alberta Hospital, Edmonton, Alberta, Canada.
Seminars in Arthritis and Rheumatism
|September 10, 2013
Summary
X-chromosome polysomy may increase susceptibility to systemic lupus erythematosus (SLE). This study reviewed cases of polysomy-X and SLE, finding increased risk in both males and females with SLE.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Systemic lupus erythematosus (SLE) disproportionately affects females.
- X-chromosome genetic factors are implicated in autoimmune disease risk.
- X-chromosome polysomy is hypothesized to further increase SLE susceptibility.
Observation:
- A case of an 11-year-old girl with tetrasomy-X (48 XXXX) and SLE was reported.
- Literature review identified additional cases of SLE in females with 47 XXX and 48 XXXX karyotypes.
- X-chromosome polysomy was found to be over-represented in males with SLE, with associated connective tissue diseases.
Findings:
- No distinct disease pattern emerged in female polysomy-X patients with SLE.
- Findings support the hypothesis that X-chromosome polysomy confers increased SLE susceptibility.
- Molecular mechanisms underlying this association are discussed.
Implications:
- X-chromosome polysomy may be a risk factor for developing SLE.
- Further research into the genetic and molecular basis of SLE is warranted.
- Understanding these genetic links can inform future diagnostic and therapeutic strategies for autoimmune diseases.
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