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

• Published in: Arthritis & rheumatology (Hoboken, N.J.) Vol. 68; no. 5; pp. 1290 - 1300
• Main Authors: Liu, Ke, Kurien, Biji T., Zimmerman, Sarah L., Kaufman, Kenneth M., Taft, Diana H., Kottyan, Leah C., Lazaro, Sara, Weaver, Carrie A., Ice, John A., Adler, Adam J., Chodosh, James, Radfar, Lida, Rasmussen, Astrid, Stone, Donald U., Lewis, David M., Li, Shibo, Koelsch, Kristi A., Igoe, Ann, Talsania, Mitali, Kumar, Jay, Maier‐Moore, Jacen S., Harris, Valerie M., Gopalakrishnan, Rajaram, Jonsson, Roland, Lessard, James A., Lu, Xianglan, Gottenberg, Jacques‐Eric, Anaya, Juan‐Manuel, Cunninghame‐Graham, Deborah S., Huang, Andrew J. W., Brennan, Michael T., Hughes, Pamela, Illei, Gabor G., Miceli‐Richard, Corinne, Keystone, Edward C., Bykerk, Vivian P., Hirschfield, Gideon, Xie, Gang, Ng, Wan‐Fai, Nordmark, Gunnel, Eriksson, Per, Omdal, Roald, Rhodus, Nelson L., Rischmueller, Maureen, Rohrer, Michael, Segal, Barbara M., Vyse, Timothy J., Wahren‐Herlenius, Marie, Witte, Torsten, Pons‐Estel, Bernardo, Alarcón‐Riquelme, Marta E., Guthridge, Joel M., James, Judith A., Lessard, Christopher J., Kelly, Jennifer A., Thompson, Susan D., Gaffney, Patrick M., Montgomery, Courtney G., Edberg, Jeffrey C., Kimberly, Robert P., Alarcón, Graciela S., Langefeld, Carl L., Gilkeson, Gary S., Kamen, Diane L., Tsao, Betty P., Joseph McCune, W., Salmon, Jane E., Merrill, Joan T., Weisman, Michael H., Wallace, Daniel J., Utset, Tammy O., Bottinger, Erwin P., Amos, Christopher I., Siminovitch, Katherine A., Mariette, Xavier, Sivils, Kathy L., Harley, John B., Hal Scofield, R.
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.05.2016
• Subjects: Arthritis, Rheumatoid - epidemiology; Autoimmune Diseases - epidemiology; Case-Control Studies; Chromosomes, Human, X; Female; Gene Dosage; Humans; In Situ Hybridization, Fluorescence; Liver Cirrhosis, Biliary - epidemiology; Lupus Erythematosus, Systemic - epidemiology; Prevalence; Sarcoidosis - epidemiology; Sex Chromosome Aberrations; Sex Chromosome Disorders of Sex Development - epidemiology; Sex Distribution; Sjogren's Syndrome - epidemiology; Trisomy

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...