In:
The Journal of Immunology, The American Association of Immunologists, Vol. 192, No. 1_Supplement ( 2014-05-01), p. 46.2-46.2
Abstract:
Mechanism for female predominance in autoimmunity is unknown. We suspected an X chromosome dose effect and predicted if so, triple X (47,XXX, 1 in ~1,000 live female births) would be increased in female predominant diseases (systemic lupus erythematosus [SLE], primary Sjögren’s syndrome [SS] , primary biliary cirrhosis [PBC] and rheumatoid arthritis [RA] )compared to diseases without female predominance (sarcoidosis, granulomatosis with polyangiitis [GPA]) and healthy controls. We used single nucleotide polymorphism (SNP) arrays to identify 47,XXX and fluorescent in situ hybridization, or q-PCR to confirm when possible. 47,XXX was found in 7 of 2,948 SLE and 3 of 1,053 SS female patients, but in none of the 4,822 female controls (OR≥21.31, 95% CI: 2.36-∞, p=0.001 and OR≥22.95, 95% CI: 1.89-∞, p=0.006, respectively). One 47,XXX was present for every ~421 SLE women and ~351 SS women. In addition, we identified one 47,XXX from each of 1,159 women with PBC and 943 with sarcoidosis. No 47,XXX was identified among 453 women with RA or 247 with GPA. In conclusion, 47,XXX was present in excess among SLE and SS subjects as predicted by X chromosome dose effect. These estimated prevalence of SLE and SS with 47,XXX being respectively ~2.4 and ~2.8 times higher than in women with 46,XX and ~24 and ~39 times higher than in men with 46,XY. There was no increase of 47,XXX is other female-biased diseases, suggesting multiple pathways to such a bias in autoimmunity.
Type of Medium:
Online Resource
ISSN:
0022-1767
,
1550-6606
DOI:
10.4049/jimmunol.192.Supp.46.2
Language:
English
Publisher:
The American Association of Immunologists
Publication Date:
2014
detail.hit.zdb_id:
1475085-5
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