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

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dc.creatorSharma, Rohanspa
dc.creatorHarris, Valerie M.spa
dc.creatorCavett, Joshuaspa
dc.creatorKurien, Biji T.spa
dc.creatorLiu, Kespa
dc.creatorKoelsch, Kristi A.spa
dc.creatorFayaaz, Anumspa
dc.creatorChaudhari, Kaustubh S.spa
dc.creatorRadfar, Lidaspa
dc.creatorLewis, Davidspa
dc.creatorStone, Donald U.spa
dc.creatorKaufman, C. Erickspa
dc.creatorLi, Shibospa
dc.creatorSegal, Barbaraspa
dc.creatorWallace, Daniel J.spa
dc.creatorWeisman, Michael H.spa
dc.creatorVenuturupalli, Swamyspa
dc.creatorKelly, Jennifer A.spa
dc.creatorPons?Estel, Bernardospa
dc.creatorJonsson, Rolandspa
dc.creatorLu, Xianglanspa
dc.creatorGottenberg, Jacques?Ericspa
dc.creatorAnaya, Juan-Manuel
dc.creatorCunninghame?Graham, Deborah S.spa
dc.creatorHuang, Andrew J. W.spa
dc.creatorBrennan, Michael T.spa
dc.creatorHughes, Pamelaspa
dc.creatorAlevizos, Iliasspa
dc.creatorMiceli?Richard, Corinnespa
dc.creatorKeystone, Edward C.spa
dc.creatorBykerk, Vivian P.spa
dc.creatorHirschfield, Gideonspa
dc.creatorNordmark, Gunnelspa
dc.creatorBucher, Sara Magnussonspa
dc.creatorEriksson, Perspa
dc.creatorOmdal, Roaldspa
dc.creatorRhodus, Nelson L.spa
dc.creatorRischmueller, Maureenspa
dc.creatorRohrer, Michaelspa
dc.creatorWahren?Herlenius, Mariespa
dc.creatorWitte, Torstenspa
dc.creatorAlarcón?Riquelme, Martaspa
dc.creatorMariette, Xavierspa
dc.creatorLessard, Christopher J.spa
dc.creatorHarley, John B.spa
dc.creatorNg, Wan?Faispa
dc.creatorRasmussen, Astridspa
dc.creatorSivils, Kathy L.spa
dc.creatorScofield, R. Halspa
dc.date.accessioned2020-05-25T23:59:23Z
dc.date.available2020-05-25T23:59:23Z
dc.date.created2017spa
dc.description.abstractObjective: 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. © 2017, American College of Rheumatologyeng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1002/art.40207
dc.identifier.issn23265205
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23033
dc.language.isoengspa
dc.publisherJohn Wiley and Sons Inc.spa
dc.relation.citationEndPage2192
dc.relation.citationIssueNo. 11
dc.relation.citationStartPage2187
dc.relation.citationTitleArthritis and Rheumatology
dc.relation.citationVolumeVol. 69
dc.relation.ispartofArthritis and Rheumatology, ISSN:23265205, Vol.69, No.11 (2017); pp. 2187-2192spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85031328096&doi=10.1002%2fart.40207&partnerID=40&md5=c8a949f53777ea2b4db468c4ba34c7abspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordArticlespa
dc.subject.keywordXXeng
dc.subject.keywordXeng
dc.subject.keywordControlled studyspa
dc.subject.keywordEpilepsyspa
dc.subject.keywordFemalespa
dc.subject.keywordHumanspa
dc.subject.keywordKaryotype 46eng
dc.subject.keywordKaryotypingspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMosaicismspa
dc.subject.keywordOligomenorrheaspa
dc.subject.keywordPriority journalspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSjoegren syndromespa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordThyroid diseasespa
dc.subject.keywordX chromosome aberrationspa
dc.subject.keywordAllelespa
dc.subject.keywordBayes theoremspa
dc.subject.keywordGene dosagespa
dc.subject.keywordGeneticsspa
dc.subject.keywordKaryotypespa
dc.subject.keywordLupus Erythematosus, Systemicspa
dc.subject.keywordSex chromosome aberrationspa
dc.subject.keywordSex Chromosome Disorders of Sex Developmentspa
dc.subject.keywordSjogren's Syndromespa
dc.subject.keywordStatistics and numerical dataspa
dc.subject.keywordTrisomyspa
dc.subject.keywordTurner syndromespa
dc.subject.keywordX chromosomespa
dc.subject.keywordAllelesspa
dc.subject.keywordBayes Theoremspa
dc.subject.keywordChromosomeseng
dc.subject.keywordFemalespa
dc.subject.keywordGene Dosagespa
dc.subject.keywordHumansspa
dc.subject.keywordKaryotypespa
dc.subject.keywordLupus Erythematosus, Systemicspa
dc.subject.keywordMosaicismspa
dc.subject.keywordPolymorphismeng
dc.subject.keywordSex Chromosome Aberrationsspa
dc.subject.keywordSex Chromosome Disorders of Sex Developmentspa
dc.subject.keywordSjogren's Syndromespa
dc.subject.keywordTrisomyspa
dc.subject.keywordTurner Syndromespa
dc.titleRare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndromespa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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