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Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome

Lookup NU author(s): Professor Fai Ng

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Abstract

© 2017 American College of Rheumatology. Objective: Sjögren's syndrome (SS) and systemic lupus erythematosus (SLE) are related by clinical and serologic manifestations as well as genetic risks. Both diseases are more commonly found in women than in men, at a ratio of ~10 to 1. Common X chromosome aneuploidies, 47,XXY and 47,XXX, are enriched among men and women, respectively, in either disease, suggesting a dose effect on the X chromosome. Methods: We examined cohorts of SS and SLE patients by constructing intensity plots of X chromosome single-nucleotide polymorphism alleles, along with determining the karyotype of selected patients. Results: Among ~2,500 women with SLE, we found 3 patients with a triple mosaic, consisting of 45,X/46,XX/47,XXX. Among ~2,100 women with SS, 1 patient had 45,X/46,XX/47,XXX, with a triplication of the distal p arm of the X chromosome in the 47,XXX cells. Neither the triple mosaic nor the partial triplication was found among the controls. In another SS cohort, we found a mother/daughter pair with partial triplication of this same region of the X chromosome. The triple mosaic occurs in ~1 in 25,000-50,000 live female births, while partial triplications are even rarer. Conclusion: Very rare X chromosome abnormalities are present among patients with either SS or SLE and may inform the location of a gene(s) that mediates an X dose effect, as well as critical cell types in which such an effect is operative.


Publication metadata

Author(s): Sharma R, Harris VM, Cavett J, Kurien BT, Liu K, Koelsch KA, Fayaaz A, Chaudhari KS, Radfar L, Lewis D, Stone DU, Kaufman CE, Li S, Segal B, Wallace DJ, Weisman MH, Venuturupalli S, Kelly JA, Pons-Estel B, Jonsson R, Lu X, Gottenberg J-E, Anaya J-M, Cunninghame-Graham DS, Huang AJW, Brennan MT, Hughes P, Alevizos I, Miceli-Richard C, Keystone EC, Bykerk VP, Hirschfield G, Nordmark G, Bucher SM, Eriksson P, Omdal R, Rhodus NL, Rischmueller M, Rohrer M, Wahren-Herlenius M, Witte T, Alarcon-Riquelme M, Mariette X, Lessard CJ, Harley JB, Ng W-F, Rasmussen A, Sivils KL, Scofield RH

Publication type: Article

Publication status: Published

Journal: Arthritis and Rheumatology

Year: 2017

Volume: 69

Issue: 11

Pages: 2187–2192

Print publication date: 01/11/2017

Online publication date: 10/07/2017

Acceptance date: 06/07/2017

ISSN (print): 2326-5191

ISSN (electronic): 2326-5205

Publisher: John Wiley and Sons Inc.

URL: https://doi.org/10.1002/art.40207

DOI: 10.1002/art.40207


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