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

Liu, Ke (author)
Kurien, Biji T (author)
Zimmerman, Sarah L (author)
show more...
Kaufman, Kenneth M (author)
Taft, Diana H (author)
Kottyan, Leah C (author)
Lazaro, Sara (author)
Weaver, Carrie A (author)
Ice, John A (author)
Adler, Adam J (author)
Chodosh, James (author)
Radfar, Lida (author)
Rasmussen, Astrid (author)
Stone, Donald U (author)
Lewis, David M (author)
Li, Shibo (author)
Koelsch, Kristi A (author)
Igoe, Ann (author)
Talsania, Mitali (author)
Kumar, Jay (author)
Maier-Moore, Jacen S (author)
Harris, Valerie M (author)
Gopalakrishnan, Rajaram (author)
Jonsson, Roland (author)
Lessard, James A (author)
Lu, Xianglan (author)
Gottenberg, Jacques-Eric (author)
Anaya, Juan-Manuel (author)
Cunninghame-Graham, Deborah S (author)
Huang, Andrew J W (author)
Brennan, Michael T (author)
Hughes, Pamela (author)
Illei, Gabor G (author)
Miceli-Richard, Corinne (author)
Keystone, Edward C (author)
Bykerk, Vivian P (author)
Hirschfield, Gideon (author)
Xie, Gang (author)
Ng, Wan-Fai (author)
Nordmark, Gunnel (author)
Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Rheumatology
Eriksson, Per (author)
Omdal, Roald (author)
Rhodus, Nelson L (author)
Rischmueller, Maureen (author)
Rohrer, Michael (author)
Segal, Barbara M (author)
Vyse, Timothy J (author)
Wahren-Herlenius, Marie (author)
Witte, Torsten (author)
Pons-Estel, Bernardo (author)
Alarcon-Riquelme, Marta E (author)
Guthridge, Joel M (author)
James, Judith A (author)
Lessard, Christopher J (author)
Kelly, Jennifer A (author)
Thompson, Susan D (author)
Gaffney, Patrick M (author)
Montgomery, Courtney G (author)
Edberg, Jeffrey C (author)
Kimberly, Robert P (author)
Alarcón, Graciela S (author)
Langefeld, Carl L (author)
Gilkeson, Gary S (author)
Kamen, Diane L (author)
Tsao, Betty P (author)
McCune, W Joseph (author)
Salmon, Jane E (author)
Merrill, Joan T (author)
Weisman, Michael H (author)
Wallace, Daniel J (author)
Utset, Tammy O (author)
Bottinger, Erwin P (author)
Amos, Christopher I (author)
Siminovitch, Katherine A (author)
Mariette, Xavier (author)
Sivils, Kathy L (author)
Harley, John B (author)
Scofield, R Hal (author)
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 (creator_code:org_t)
Wiley, 2016
2016
English.
In: Arthritis & Rheumatology. - : Wiley. - 2326-5191 .- 2326-5205. ; 68:5, s. 1290-1300
  • Journal article (peer-reviewed)
Abstract Subject headings
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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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)

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By the author/editor
Liu, Ke
Kurien, Biji T
Zimmerman, Sarah ...
Kaufman, Kenneth ...
Taft, Diana H
Kottyan, Leah C
show more...
Lazaro, Sara
Weaver, Carrie A
Ice, John A
Adler, Adam J
Chodosh, James
Radfar, Lida
Rasmussen, Astri ...
Stone, Donald U
Lewis, David M
Li, Shibo
Koelsch, Kristi ...
Igoe, Ann
Talsania, Mitali
Kumar, Jay
Maier-Moore, Jac ...
Harris, Valerie ...
Gopalakrishnan, ...
Jonsson, Roland
Lessard, James A
Lu, Xianglan
Gottenberg, Jacq ...
Anaya, Juan-Manu ...
Cunninghame-Grah ...
Huang, Andrew J ...
Brennan, Michael ...
Hughes, Pamela
Illei, Gabor G
Miceli-Richard, ...
Keystone, Edward ...
Bykerk, Vivian P
Hirschfield, Gid ...
Xie, Gang
Ng, Wan-Fai
Nordmark, Gunnel
Eriksson, Per
Omdal, Roald
Rhodus, Nelson L
Rischmueller, Ma ...
Rohrer, Michael
Segal, Barbara M
Vyse, Timothy J
Wahren-Herlenius ...
Witte, Torsten
Pons-Estel, Bern ...
Alarcon-Riquelme ...
Guthridge, Joel ...
James, Judith A
Lessard, Christo ...
Kelly, Jennifer ...
Thompson, Susan ...
Gaffney, Patrick ...
Montgomery, Cour ...
Edberg, Jeffrey ...
Kimberly, Robert ...
Alarcón, Graciel ...
Langefeld, Carl ...
Gilkeson, Gary S
Kamen, Diane L
Tsao, Betty P
McCune, W Joseph
Salmon, Jane E
Merrill, Joan T
Weisman, Michael ...
Wallace, Daniel ...
Utset, Tammy O
Bottinger, Erwin ...
Amos, Christophe ...
Siminovitch, Kat ...
Mariette, Xavier
Sivils, Kathy L
Harley, John B
Scofield, R Hal
show less...
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MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Clinical Medicin ...
and Rheumatology and ...
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Arthritis & Rheu ...
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Uppsala University

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