Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/105535
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Type: Journal article
Title: X chromosome dose and sex bias in autoimmune diseases: increased prevalence of 47,XXX in systemic lupus erythematosus and Sjögren's syndrome
Author: Liu, K.
Kurien, B.
Zimmerman, S.
Kaufman, K.
Taft, D.
Kottyan, L.
Lazaro, S.
Weaver, C.
Ice, J.
Adler, A.
Chodosh, J.
Radfar, L.
Rasmussen, A.
Stone, D.
Lewis, D.
Li, S.
Koelsch, K.
Igoe, A.
Talsania, M.
Kumar, J.
et al.
Citation: Arthritis and Rheumatology, 2016; 68(5):1290-1300
Publisher: Wiley
Issue Date: 2016
ISSN: 2326-5191
2326-5205
Statement of
Responsibility: 
Ke Liu, Biji T. Kurien, Sarah L. Zimmerman, Kenneth M. Kaufman, Diana H. Taft, Leah C. Kottyan, Sara Lazaro, Carrie A. Weaver, John A. Ice, Adam J. Adler, James Chodosh, Lida Radfar, Astrid Rasmussen, Donald U. Stone, David M. Lewis, Shibo Li, Kristi A. Koelsch, Ann Igoe, Mitali Talsania, Jay Kumar, Jacen S. Maier-Moore, Valerie M. Harris, Rajaram Gopalakrishnan, Roland Jonsson, James A. Lessard, Xianglan Lu, Jacques-Eric Gottenberg, Juan-Manuel Anaya, Deborah S. Cunninghame-Graham, Andrew J. W. Huang, Michael T. Brennan, Pamela Hughes, Gabor G. Illei, Corinne Miceli-Richard, Edward C. Keystone, Vivian P. Bykerk, Gideon Hirschfield, Gang Xie, Wan-Fai Ng, Gunnel Nordmark, Per Eriksson, Roald Omdal, Nelson L. Rhodus, Maureen Rischmueller, Michael Rohrer, Barbara M. Segal, Timothy J. Vyse, Marie Wahren-Herlenius, Torsten Witte, Bernardo Pons-Estel, Marta E. Alarc, on-Riquelme, Joel M. Guthridge, Judith A. James, Christopher J. Lessard, Jennifer A. Kelly, Susan D. Thompson, Patrick M. Gaffney, Courtney G. Montgomery, Jeffrey C. Edberg, Robert P. Kimberly, Graciela S. Alarc, on, Carl L. Langefeld, Gary S. Gilkeson, Diane L. Kamen, Betty P. Tsao, W. Joseph McCune, Jane E. Salmon, Joan T. Merrill, Michael H. Weisman, Daniel J. Wallace, Tammy O. Utset, Erwin P. Bottinger, Christopher I. Amos, Katherine A. Siminovitch, Xavier Mariette, Kathy L. Sivils, John B. Harley and R. Hal Scofield
Abstract: 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.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.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.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.
Keywords: Chromosomes, Human, X; Humans; Arthritis, Rheumatoid; Sjogren's Syndrome; Liver Cirrhosis, Biliary; Sarcoidosis; Lupus Erythematosus, Systemic; Autoimmune Diseases; Trisomy; Sex Chromosome Aberrations; In Situ Hybridization, Fluorescence; Prevalence; Case-Control Studies; Sex Distribution; Gene Dosage; Female; Sex Chromosome Disorders of Sex Development
Rights: © 2016, American College of Rheumatology
RMID: 0030042124
DOI: 10.1002/art.39560
Appears in Collections:Medicine publications

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