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Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjogrens Syndrome
University of Oklahoma, OK USA; Department Vet Affairs Medical Centre, OK USA.
Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA.
Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA.
University of Oklahoma, OK USA; Department Vet Affairs Medical Centre, OK USA.
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2017 (English)In: Arthritis & Rheumatology, ISSN 2326-5191, E-ISSN 2326-5205, Vol. 69, no 11, p. 2187-2192Article in journal (Refereed) Published
Abstract [en]

Objective. Sjogrens 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 similar to 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 similar to 2,500 women with SLE, we found 3 patients with a triple mosaic, consisting of 45,X/46,XX/47,XXX. Among similar to 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 similar to 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.

Place, publisher, year, edition, pages
WILEY , 2017. Vol. 69, no 11, p. 2187-2192
National Category
Rheumatology and Autoimmunity
Identifiers
URN: urn:nbn:se:liu:diva-143080DOI: 10.1002/art.40207ISI: 000414011300013PubMedID: 28692793OAI: oai:DiVA.org:liu-143080DiVA, id: diva2:1159439
Note

Funding Agencies|NIH (National Institute of Arthritis and Musculoskeletal and Skin Diseases) [AR-053483, AR-053734]; NIH (National Institute of Allergy and Infectious Diseases) [AI-082714]; NIH (National Institute of General Medical Sciences) [GM-104938]; US Department of Veterans Affairs; Lupus Research Institute; UCB; Ionis; Ampel; Bristol-Myers Squibb; Pfizer; Regeneron; Sanofi/Genzyme; GlaxoSmithKline; Novartis; Abbott; Boston Pharmaceuticals

Available from: 2017-11-22 Created: 2017-11-22 Last updated: 2017-11-22

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Eriksson, Per
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Division of Neuro and Inflammation ScienceFaculty of Medicine and Health SciencesDepartment of Rheumatology
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