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> (2016) >
X Chromosome Dose a...
X Chromosome Dose and Sex Bias in Autoimmune Diseases : Increased 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
- Article/chapterEnglish2016
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Wiley,2016
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-273528
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-273528URI
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https://doi.org/10.1002/art.39560DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
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OBJECTIVE:More than 80% of autoimmune disease is female dominant, but the mechanism for this female bias is poorly understood. We suspected an X chromosome dose effect and hypothesized that trisomy X (47,XXX, 1 in ∼1,000 live female births) would be increased in female predominant diseases (e.g. systemic lupus erythematosus [SLE], primary Sjögren's syndrome [SS], primary biliary cirrhosis [PBC] and rheumatoid arthritis [RA]) compared to diseases without female predominance (sarcoidosis) and controls.METHODS:We identified 47,XXX subjects using aggregate data from single nucleotide polymorphism (SNP) arrays and confirmed, when possible, by fluorescent in situ hybridization (FISH) or quantitative polymerase chain reaction (q-PCR).RESULTS:We found 47,XXX in seven of 2,826 SLE and three of 1,033 SS female patients, but only in two of the 7,074 female controls (p=0.003, OR=8.78, 95% CI: 1.67-86.79 and p=0.02, OR=10.29, 95% CI: 1.18-123.47; respectively). One 47,XXX subject was present for ∼404 SLE women and ∼344 SS women. 47,XXX was present in excess among SLE and SS subjects.CONCLUSION:The estimated prevalence of SLE and SS in women with 47,XXX was respectively ∼2.5 and ∼2.9 times higher than in 46,XX women and ∼25 and ∼41 times higher than in 46,XY men. No statistically significant increase of 47,XXX was observed in other female-biased diseases (PBC or RA), supporting the idea of multiple pathways to sex bias in autoimmunity. This article is protected by copyright. All rights reserved.
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Kurien, Biji T
(author)
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Zimmerman, Sarah L
(author)
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Kaufman, Kenneth M
(author)
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Taft, Diana H
(author)
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Kottyan, Leah C
(author)
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Lazaro, Sara
(author)
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Weaver, Carrie A
(author)
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Ice, John A
(author)
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Adler, Adam J
(author)
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Chodosh, James
(author)
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Radfar, Lida
(author)
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Rasmussen, Astrid
(author)
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Stone, Donald U
(author)
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Lewis, David M
(author)
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Li, Shibo
(author)
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Koelsch, Kristi A
(author)
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Igoe, Ann
(author)
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Talsania, Mitali
(author)
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Kumar, Jay
(author)
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Maier-Moore, Jacen S
(author)
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Harris, Valerie M
(author)
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Gopalakrishnan, Rajaram
(author)
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Jonsson, Roland
(author)
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Lessard, James A
(author)
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Lu, Xianglan
(author)
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Gottenberg, Jacques-Eric
(author)
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Anaya, Juan-Manuel
(author)
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Cunninghame-Graham, Deborah S
(author)
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Huang, Andrew J W
(author)
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Brennan, Michael T
(author)
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Hughes, Pamela
(author)
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Illei, Gabor G
(author)
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Miceli-Richard, Corinne
(author)
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Keystone, Edward C
(author)
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Bykerk, Vivian P
(author)
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Hirschfield, Gideon
(author)
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Xie, Gang
(author)
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Ng, Wan-Fai
(author)
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Nordmark, GunnelUppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Rheumatology(Swepub:uu)gunnnord
(author)
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Eriksson, Per
(author)
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Omdal, Roald
(author)
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Rhodus, Nelson L
(author)
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Rischmueller, Maureen
(author)
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Rohrer, Michael
(author)
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Segal, Barbara M
(author)
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Vyse, Timothy J
(author)
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Wahren-Herlenius, Marie
(author)
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Witte, Torsten
(author)
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Pons-Estel, Bernardo
(author)
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Alarcon-Riquelme, Marta E
(author)
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Guthridge, Joel M
(author)
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James, Judith A
(author)
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Lessard, Christopher J
(author)
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Kelly, Jennifer A
(author)
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Thompson, Susan D
(author)
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Gaffney, Patrick M
(author)
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Montgomery, Courtney G
(author)
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Edberg, Jeffrey C
(author)
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Kimberly, Robert P
(author)
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Alarcón, Graciela S
(author)
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Langefeld, Carl L
(author)
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Gilkeson, Gary S
(author)
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Kamen, Diane L
(author)
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Tsao, Betty P
(author)
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McCune, W Joseph
(author)
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Salmon, Jane E
(author)
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Merrill, Joan T
(author)
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Weisman, Michael H
(author)
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Wallace, Daniel J
(author)
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Utset, Tammy O
(author)
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Bottinger, Erwin P
(author)
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Amos, Christopher I
(author)
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Siminovitch, Katherine A
(author)
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Mariette, Xavier
(author)
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Sivils, Kathy L
(author)
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Harley, John B
(author)
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Scofield, R Hal
(author)
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Uppsala universitetReumatologi
(creator_code:org_t)
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In:Arthritis & Rheumatology: Wiley68:5, s. 1290-13002326-51912326-5205
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Liu, Ke
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Kurien, Biji T
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Kaufman, Kenneth ...
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Taft, Diana H
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Kottyan, Leah C
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Lazaro, Sara
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Weaver, Carrie A
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Ice, John A
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Adler, Adam J
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Chodosh, James
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Radfar, Lida
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Rasmussen, Astri ...
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Stone, Donald U
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Lewis, David M
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Li, Shibo
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Koelsch, Kristi ...
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Igoe, Ann
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Talsania, Mitali
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Kumar, Jay
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Maier-Moore, Jac ...
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Harris, Valerie ...
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Gopalakrishnan, ...
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Jonsson, Roland
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Lessard, James A
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Lu, Xianglan
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Gottenberg, Jacq ...
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Anaya, Juan-Manu ...
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Cunninghame-Grah ...
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Huang, Andrew J ...
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Brennan, Michael ...
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Hughes, Pamela
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Illei, Gabor G
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Keystone, Edward ...
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Bykerk, Vivian P
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Hirschfield, Gid ...
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Xie, Gang
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Ng, Wan-Fai
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Nordmark, Gunnel
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Eriksson, Per
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Omdal, Roald
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Rhodus, Nelson L
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Rischmueller, Ma ...
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Rohrer, Michael
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Segal, Barbara M
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Vyse, Timothy J
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Wahren-Herlenius ...
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Witte, Torsten
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Pons-Estel, Bern ...
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Alarcon-Riquelme ...
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Guthridge, Joel ...
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James, Judith A
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Lessard, Christo ...
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Kelly, Jennifer ...
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Thompson, Susan ...
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Gaffney, Patrick ...
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Montgomery, Cour ...
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Edberg, Jeffrey ...
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Kimberly, Robert ...
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Alarcón, Graciel ...
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Langefeld, Carl ...
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Gilkeson, Gary S
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Kamen, Diane L
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Tsao, Betty P
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McCune, W Joseph
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Salmon, Jane E
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Merrill, Joan T
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Weisman, Michael ...
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Wallace, Daniel ...
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Utset, Tammy O
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Bottinger, Erwin ...
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Amos, Christophe ...
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Siminovitch, Kat ...
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Mariette, Xavier
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Sivils, Kathy L
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Harley, John B
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Scofield, R Hal
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- MEDICAL AND HEALTH SCIENCES
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Arthritis & Rheu ...
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Uppsala University