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 language | English (US) |
|---|---|
| Pages (from-to) | 2473-2481 |
| Number of pages | 9 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 158 A |
| Issue number | 10 |
| DOIs | |
| State | Published - Oct 2012 |
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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 journal › Article
}
TY - JOUR
T1 - Immune-mediated disorders among women carriers of fragile X premutation alleles
AU - Winarni, Tri Indah
AU - Chonchaiya, Weerasak
AU - Sumekar, Tanjung Ayu
AU - Ashwood, Paul
AU - Morales, Guadalupe Mendoza
AU - Tassone, Flora
AU - Nguyen, Danh V.
AU - Faradz, Sultana M H
AU - Van de Water, Judith A
AU - Cook, Kylee
AU - Hamlin, Alyssa
AU - Mu, Yi
AU - Hagerman, Paul J
AU - Hagerman, Randi J
PY - 2012/10
Y1 - 2012/10
N2 - 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.
AB - 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.
KW - Autoimmune
KW - FXTAS
KW - Ovarian insufficiency
KW - RNA toxicity
UR - http://www.scopus.com/inward/record.url?scp=84866521962&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84866521962&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.35569
DO - 10.1002/ajmg.a.35569
M3 - Article
C2 - 22903889
AN - SCOPUS:84866521962
VL - 158 A
SP - 2473
EP - 2481
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - 10
ER -