X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome

Objective More than 80% of autoimmune disease predominantly affects females, but the mechanism for this female bias is poorly understood. We suspected that an X chromosome dose effect accounts for this, and we undertook this study to test our hypothesis that trisomy X (47,XXX; occurring in ?1 in 1,0...

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Tipo de recurso:
Fecha de publicación:
2016
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/23022
Acceso en línea:
https://doi.org/10.1002/art.39560
https://repository.urosario.edu.co/handle/10336/23022
Palabra clave:
Article
Autoimmune disease
Controlled study
Female
Fluorescence in situ hybridization
Gene dosage
Human
Live birth
Major clinical study
Polymerase chain reaction
Prevalence
Primary biliary cirrhosis
Priority journal
Quality control
Rheumatoid arthritis
Sarcoidosis
Sex
Single nucleotide polymorphism
Systemic lupus erythematosus
X chromosome
Autoimmune Diseases
Case control study
Sarcoidosis
Sex chromosome aberration
Sex Chromosome Disorders of Sex Development
Sex ratio
Sjogren's Syndrome
Trisomy
X chromosome
Autoimmune Diseases
Case-Control Studies
Female
Gene Dosage
Humans
Prevalence
Sarcoidosis
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development
Sex Distribution
Sjogren's Syndrome
Trisomy
Rheumatoid
Systemic
Rheumatoid
Fluorescence
Human
Biliary
Biliary
XXX
Systemic
X
Karyotype 47
Arthritis
Liver Cirrhosis
Lupus Erythematosus
Arthritis
Chromosomes
In Situ Hybridization
Liver Cirrhosis
Lupus Erythematosus
Rights
License
Abierto (Texto Completo)
id EDOCUR2_91a8d14a779b1e48419c88bc9d60bd3d
oai_identifier_str oai:repository.urosario.edu.co:10336/23022
network_acronym_str EDOCUR2
network_name_str Repositorio EdocUR - U. Rosario
repository_id_str
dc.title.spa.fl_str_mv X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
title X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
spellingShingle X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
Article
Autoimmune disease
Controlled study
Female
Fluorescence in situ hybridization
Gene dosage
Human
Live birth
Major clinical study
Polymerase chain reaction
Prevalence
Primary biliary cirrhosis
Priority journal
Quality control
Rheumatoid arthritis
Sarcoidosis
Sex
Single nucleotide polymorphism
Systemic lupus erythematosus
X chromosome
Autoimmune Diseases
Case control study
Sarcoidosis
Sex chromosome aberration
Sex Chromosome Disorders of Sex Development
Sex ratio
Sjogren's Syndrome
Trisomy
X chromosome
Autoimmune Diseases
Case-Control Studies
Female
Gene Dosage
Humans
Prevalence
Sarcoidosis
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development
Sex Distribution
Sjogren's Syndrome
Trisomy
Rheumatoid
Systemic
Rheumatoid
Fluorescence
Human
Biliary
Biliary
XXX
Systemic
X
Karyotype 47
Arthritis
Liver Cirrhosis
Lupus Erythematosus
Arthritis
Chromosomes
In Situ Hybridization
Liver Cirrhosis
Lupus Erythematosus
title_short X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
title_full X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
title_fullStr X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
title_full_unstemmed X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
title_sort X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
dc.subject.keyword.spa.fl_str_mv Article
Autoimmune disease
Controlled study
Female
Fluorescence in situ hybridization
Gene dosage
Human
Live birth
Major clinical study
Polymerase chain reaction
Prevalence
Primary biliary cirrhosis
Priority journal
Quality control
Rheumatoid arthritis
Sarcoidosis
Sex
Single nucleotide polymorphism
Systemic lupus erythematosus
X chromosome
Autoimmune Diseases
Case control study
Sarcoidosis
Sex chromosome aberration
Sex Chromosome Disorders of Sex Development
Sex ratio
Sjogren's Syndrome
Trisomy
X chromosome
Autoimmune Diseases
Case-Control Studies
Female
Gene Dosage
Humans
Prevalence
Sarcoidosis
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development
Sex Distribution
Sjogren's Syndrome
Trisomy
topic Article
Autoimmune disease
Controlled study
Female
Fluorescence in situ hybridization
Gene dosage
Human
Live birth
Major clinical study
Polymerase chain reaction
Prevalence
Primary biliary cirrhosis
Priority journal
Quality control
Rheumatoid arthritis
Sarcoidosis
Sex
Single nucleotide polymorphism
Systemic lupus erythematosus
X chromosome
Autoimmune Diseases
Case control study
Sarcoidosis
Sex chromosome aberration
Sex Chromosome Disorders of Sex Development
Sex ratio
Sjogren's Syndrome
Trisomy
X chromosome
Autoimmune Diseases
Case-Control Studies
Female
Gene Dosage
Humans
Prevalence
Sarcoidosis
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development
Sex Distribution
Sjogren's Syndrome
Trisomy
Rheumatoid
Systemic
Rheumatoid
Fluorescence
Human
Biliary
Biliary
XXX
Systemic
X
Karyotype 47
Arthritis
Liver Cirrhosis
Lupus Erythematosus
Arthritis
Chromosomes
In Situ Hybridization
Liver Cirrhosis
Lupus Erythematosus
dc.subject.keyword.eng.fl_str_mv Rheumatoid
Systemic
Rheumatoid
Fluorescence
Human
Biliary
Biliary
XXX
Systemic
X
Karyotype 47
Arthritis
Liver Cirrhosis
Lupus Erythematosus
Arthritis
Chromosomes
In Situ Hybridization
Liver Cirrhosis
Lupus Erythematosus
description Objective More than 80% of autoimmune disease predominantly affects females, but the mechanism for this female bias is poorly understood. We suspected that an X chromosome dose effect accounts for this, and we undertook this study to test our hypothesis that trisomy X (47,XXX; occurring in ?1 in 1,000 live female births) would be increased in patients with female-predominant diseases (systemic lupus erythematosus [SLE], primary Sjögren's syndrome [SS], primary biliary cirrhosis, and rheumatoid arthritis [RA]) compared to patients with diseases without female predominance (sarcoidosis) and compared to controls. Methods All subjects in this study were female. We identified subjects with 47,XXX using aggregate data from single-nucleotide polymorphism arrays, and, when possible, we confirmed the presence of 47,XXX using fluorescence in situ hybridization or quantitative polymerase chain reaction. Results We found 47,XXX in 7 of 2,826 SLE patients and in 3 of 1,033 SS patients, but in only 2 of 7,074 controls (odds ratio in the SLE and primary SS groups 8.78 [95% confidence interval 1.67-86.79], P = 0.003 and odds ratio 10.29 [95% confidence interval 1.18-123.47], P = 0.02, respectively). One in 404 women with SLE and 1 in 344 women with SS had 47,XXX. There was an excess of 47,XXX among SLE and SS patients. Conclusion The estimated prevalence of SLE and SS in women with 47,XXX was ?2.5 and ?2.9 times higher, respectively, than that in women with 46,XX and ?25 and ?41 times higher, respectively, than that in men with 46,XY. No statistically significant increase of 47,XXX was observed in other female-biased diseases (primary biliary cirrhosis or RA), supporting the idea of multiple pathways to sex bias in autoimmunity. © 2016, American College of Rheumatology.
publishDate 2016
dc.date.created.spa.fl_str_mv 2016
dc.date.accessioned.none.fl_str_mv 2020-05-25T23:59:19Z
dc.date.available.none.fl_str_mv 2020-05-25T23:59:19Z
dc.type.eng.fl_str_mv article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_6501
dc.type.spa.spa.fl_str_mv Artículo
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1002/art.39560
dc.identifier.issn.none.fl_str_mv 23265205
dc.identifier.uri.none.fl_str_mv https://repository.urosario.edu.co/handle/10336/23022
url https://doi.org/10.1002/art.39560
https://repository.urosario.edu.co/handle/10336/23022
identifier_str_mv 23265205
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.citationEndPage.none.fl_str_mv 1300
dc.relation.citationIssue.none.fl_str_mv No. 5
dc.relation.citationStartPage.none.fl_str_mv 1290
dc.relation.citationTitle.none.fl_str_mv Arthritis and Rheumatology
dc.relation.citationVolume.none.fl_str_mv Vol. 68
dc.relation.ispartof.spa.fl_str_mv Arthritis and Rheumatology, ISSN:23265205, Vol.68, No.5 (2016); pp. 1290-1300
dc.relation.uri.spa.fl_str_mv https://www.scopus.com/inward/record.uri?eid=2-s2.0-84964626469&doi=10.1002%2fart.39560&partnerID=40&md5=66a0683eb69078892705bff17480a215
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.acceso.spa.fl_str_mv Abierto (Texto Completo)
rights_invalid_str_mv Abierto (Texto Completo)
http://purl.org/coar/access_right/c_abf2
dc.format.mimetype.none.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv John Wiley and Sons Inc.
institution Universidad del Rosario
dc.source.instname.spa.fl_str_mv instname:Universidad del Rosario
dc.source.reponame.spa.fl_str_mv reponame:Repositorio Institucional EdocUR
repository.name.fl_str_mv Repositorio institucional EdocUR
repository.mail.fl_str_mv edocur@urosario.edu.co
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We suspected that an X chromosome dose effect accounts for this, and we undertook this study to test our hypothesis that trisomy X (47,XXX; occurring in ?1 in 1,000 live female births) would be increased in patients with female-predominant diseases (systemic lupus erythematosus [SLE], primary Sjögren's syndrome [SS], primary biliary cirrhosis, and rheumatoid arthritis [RA]) compared to patients with diseases without female predominance (sarcoidosis) and compared to controls. Methods All subjects in this study were female. We identified subjects with 47,XXX using aggregate data from single-nucleotide polymorphism arrays, and, when possible, we confirmed the presence of 47,XXX using fluorescence in situ hybridization or quantitative polymerase chain reaction. Results We found 47,XXX in 7 of 2,826 SLE patients and in 3 of 1,033 SS patients, but in only 2 of 7,074 controls (odds ratio in the SLE and primary SS groups 8.78 [95% confidence interval 1.67-86.79], P = 0.003 and odds ratio 10.29 [95% confidence interval 1.18-123.47], P = 0.02, respectively). One in 404 women with SLE and 1 in 344 women with SS had 47,XXX. There was an excess of 47,XXX among SLE and SS patients. Conclusion The estimated prevalence of SLE and SS in women with 47,XXX was ?2.5 and ?2.9 times higher, respectively, than that in women with 46,XX and ?25 and ?41 times higher, respectively, than that in men with 46,XY. No statistically significant increase of 47,XXX was observed in other female-biased diseases (primary biliary cirrhosis or RA), supporting the idea of multiple pathways to sex bias in autoimmunity. © 2016, American College of Rheumatology.application/pdfhttps://doi.org/10.1002/art.3956023265205https://repository.urosario.edu.co/handle/10336/23022engJohn Wiley and Sons Inc.1300No. 51290Arthritis and RheumatologyVol. 68Arthritis and Rheumatology, ISSN:23265205, Vol.68, No.5 (2016); pp. 1290-1300https://www.scopus.com/inward/record.uri?eid=2-s2.0-84964626469&doi=10.1002%2fart.39560&partnerID=40&md5=66a0683eb69078892705bff17480a215Abierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURArticleAutoimmune diseaseControlled studyFemaleFluorescence in situ hybridizationGene dosageHumanLive birthMajor clinical studyPolymerase chain reactionPrevalencePrimary biliary cirrhosisPriority journalQuality controlRheumatoid arthritisSarcoidosisSexSingle nucleotide polymorphismSystemic lupus erythematosusX chromosomeAutoimmune DiseasesCase control studySarcoidosisSex chromosome aberrationSex Chromosome Disorders of Sex DevelopmentSex ratioSjogren's SyndromeTrisomyX chromosomeAutoimmune DiseasesCase-Control StudiesFemaleGene DosageHumansPrevalenceSarcoidosisSex Chromosome AberrationsSex Chromosome Disorders of Sex DevelopmentSex DistributionSjogren's SyndromeTrisomyRheumatoidSystemicRheumatoidFluorescenceHumanBiliaryBiliaryXXXSystemicXKaryotype 47ArthritisLiver CirrhosisLupus ErythematosusArthritisChromosomesIn Situ HybridizationLiver CirrhosisLupus ErythematosusX Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's SyndromearticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Liu, KeKurien, Biji TZimmerman, Sarah LKaufman, Kenneth MTaft, Diana HKottyan, Leah CLazaro, SaraWeaver, Carrie AIce, John AAdler, Adam JChodosh, JamesRadfar, LidaRasmussen, AstridStone, Donald ULewis, David MLi, ShiboKoelsch, Kristi AIgoe, AnnTalsania, MitaliKumar, JayMaier-Moore, Jacen SHarris, Valerie MGopalakrishnan, RajaramJonsson, RolandLessard, James ALu, XianglanGottenberg, Jacques-EricAnaya, Juan-ManuelCunninghame-Graham, Deborah SHuang, Andrew J WBrennan, Michael THughes, PamelaIllei, Gabor GMiceli-Richard, CorinneKeystone, Edward CBykerk, Vivian PHirschfield, GideonXie, GangNg, Wan-FaiNordmark, GunnelEriksson, PerOmdal, RoaldRhodus, Nelson LRischmueller, MaureenRohrer, MichaelSegal, Barbara MVyse, Timothy JWahren-Herlenius, MarieWitte, TorstenPons-Estel, BernardoAlarcon-Riquelme, Marta EGuthridge, Joel MJames, Judith ALessard, Christopher JKelly, Jennifer AThompson, Susan DGaffney, Patrick MMontgomery, Courtney GEdberg, Jeffrey CKimberly, Robert PAlarcón, Graciela SLangefeld, Carl LGilkeson, Gary SKamen, Diane LTsao, Betty PMcCune, W JosephSalmon, Jane EMerrill, Joan TWeisman, Michael HWallace, Daniel JUtset, Tammy OBottinger, Erwin PAmos, Christopher ISiminovitch, Katherine AMariette, XavierSivils, Kathy LHarley, John BScofield, R Hal10336/23022oai:repository.urosario.edu.co:10336/230222022-05-02 07:37:13.808214https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co