Immune-Mediated Disorders Among Women Carriers of Fragile X Premutation Alleles

Winarni, Tri Indah and Chonchaiya, Weerasak and Sumekar, Tanjung Ayu and Ashwood, Paul and Morales, Guadalupe Mendoza and Tassone, Flora (2012) Immune-Mediated Disorders Among Women Carriers of Fragile X Premutation Alleles. American Journal of Medical Genetics Part A: Volume 158A, Number 10, October 2012, 158A (10). pp. 2473-2481.

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The relative risk of immune-mediated disorders (IMDs) among women carriers of premutation alleles is estimated by a survey for IMDs among 344 carrier women (age 19–81 years; mean 46.35 and SD12.60) and 72 controls (age 18–87 years; mean 52.40 and SD 15.40). One hundred fifty four (44.77%) women carrier had at least oneIMD, as did 20 controls (27.78%).Among women carriers, autoimmune thyroid disorder was the most common (24.4%), then fibromyalgia (10.2%), irritable bowel syndrome (IBS; 9.9%), Raynaud’s phenomenon (7.6%), rheumatoid arthritis (RA; 3.8%), Sj€ogren syndrome (2.6%), systemic lupus erythematosus(SLE; 2.03%), multiple sclerosis (1.74%). Of 55 carriers age 40 or older with FXTAS, 72.73% had at least one IMD, compared to 46.54% of those without FXTAS (n¼159), and 31.58% of controls (n¼57). The estimated odds ratio (OR) for IMD is 2.6 (95% CI 1.2–5.6, P¼0.015) for women with FXTAS relative to those without FXTAS; the likelihood of IMD in carriers without or with FXTAS was also significantly higher than for controls (OR 2.1, 95% CI 1.1–4.2, P¼0.034; OR 5.5, 95% CI 2.4–12.5, P<0.001, respectively). Similarly, the odds of having an IMD among carriers with FXPOI is about 2.4 times higher when compared to carriers without FXPOI (95% CI 1.1 –5.0; P¼0.021). The likelihood of IMD in carriers with or without FXPOI is greater (OR 2.4, 95% CI 1.1–5.0; P¼0.021) compared to that of controls. 2012 Wiley Periodicals, Inc. Key words: autoimmune; FXTAS; RNA toxicity; ovarian insufficiency

Item Type:Article
Subjects:R Medicine > R Medicine (General)
Divisions:Faculty of Medicine > Department of Medicine
Faculty of Medicine > Department of Medicine
ID Code:67592
Deposited By:Ms Lutfiatun Heni
Deposited On:07 Dec 2018 09:54
Last Modified:07 Dec 2018 10:10

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