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Immune‐mediated disorders among women carriers of fragile X premutation alleles
Author(s) -
Winarni Tri Indah,
Chonchaiya Weerasak,
Sumekar Tanjung Ayu,
Ashwood Paul,
Morales Guadalupe Mendoza,
Tassone Flora,
Nguyen Danh V.,
Faradz Sultana M.H.,
Van de Water Judy,
Cook Kylee,
Hamlin Alyssa,
Mu Yi,
Hagerman Paul J.,
Hagerman Randi J.
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35569
Subject(s) - medicine , odds ratio , gastroenterology , rheumatoid arthritis , fibromyalgia
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 SD 12.60) 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 one IMD, 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%), Sjögren 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 (n = 159), and 31.58% of controls (n = 57). The estimated odds ratio (OR) for IMD is 2.6 (95% CI 1.2–5.6, P = 0.015) 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, P = 0.034; 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; P = 0.021). The likelihood of IMD in carriers with or without FXPOI is greater (OR 2.4, 95% CI 1.1–5.0; P = 0.021) compared to that of controls. © 2012 Wiley Periodicals, Inc.