Immune-mediated disorders among women carriers of fragile X premutation alleles

Tri Indah Winarni, Weerasak Chonchaiya, Tanjung Ayu Sumekar, Paul Ashwood, Guadalupe Mendoza Morales, Flora Tassone, Danh V Nguyen, Sultana M H Faradz, Judy Van de Water, Kylee Cook, Alyssa Hamlin, Yi Mu, Paul J. Hagerman, Randi J. Hagerman

Research output: Contribution to journalArticlepeer-review

79 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)2473-2481
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number10
StatePublished - Oct 2012


  • Autoimmune
  • Ovarian insufficiency
  • RNA toxicity

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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