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, Judith A Van de Water, Kylee Cook, Alyssa Hamlin, Yi Mu, Paul J Hagerman, Randi J Hagerman

Research output: Contribution to journalArticle

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Abstract

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
DOIs
StatePublished - Oct 2012

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Immune System Diseases
Alleles
Odds Ratio
Raynaud Disease
Fibromyalgia
Irritable Bowel Syndrome
Systemic Lupus Erythematosus
Multiple Sclerosis
Rheumatoid Arthritis
Thyroid Gland

Keywords

  • Autoimmune
  • FXTAS
  • Ovarian insufficiency
  • RNA toxicity

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Immune-mediated disorders among women carriers of fragile X premutation alleles. / 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, Judith A; Cook, Kylee; Hamlin, Alyssa; Mu, Yi; Hagerman, Paul J; Hagerman, Randi J.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 10, 10.2012, p. 2473-2481.

Research output: Contribution to journalArticle

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, Judith A ; Cook, Kylee ; Hamlin, Alyssa ; Mu, Yi ; Hagerman, Paul J ; Hagerman, Randi J. / Immune-mediated disorders among women carriers of fragile X premutation alleles. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 10. pp. 2473-2481.
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AU - Tassone, Flora

AU - Nguyen, Danh V.

AU - Faradz, Sultana M H

AU - Van de Water, Judith A

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