Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Health System, Sacramento, USA.
Am J Med Genet A. 2012 Oct;158A(10):2473-81. doi: 10.1002/ajmg.a.35569. Epub 2012 Aug 17.
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.
对 344 名（年龄 19-81 岁；平均年龄 46.35 岁，标准差 12.60）女性携带者和 72 名对照者（年龄 18-87 岁；平均年龄 52.40 岁，标准差 15.40 岁）进行 IMD 调查，以评估女性携带者前突变等位基因中免疫介导疾病（IMD）的相对风险。154 名（44.77%）女性携带者至少有一种 IMD，20 名对照者（27.78%）也是如此。在女性携带者中，最常见的是自身免疫性甲状腺疾病（24.4%），其次是纤维肌痛（10.2%）、肠易激综合征（IBS；9.9%）、雷诺现象（7.6%）、类风湿关节炎（RA；3.8%）、干燥综合征（2.6%）、系统性红斑狼疮（SLE；2.03%）、多发性硬化症（1.74%）。在 55 名年龄在 40 岁或以上且有 FXTAS 的携带者中，72.73%有至少一种 IMD，而没有 FXTAS 的 159 名携带者中为 46.54%，57 名对照者中为 31.58%。与没有 FXTAS 的携带者相比，有 FXTAS 的携带者发生 IMD 的估计比值比（OR）为 2.6（95%CI 1.2-5.6，P=0.015）；没有或有 FXTAS 的携带者发生 IMD 的可能性也明显高于对照者（OR 2.1，95%CI 1.1-4.2，P=0.034；OR 5.5，95%CI 2.4-12.5，P<0.001）。同样，与没有 FXPOI 的携带者相比，有 FXPOI 的携带者发生 IMD 的几率约高 2.4 倍（95%CI 1.1-5.0；P=0.021）。有或没有 FXPOI 的携带者发生 IMD 的可能性（OR 2.4，95%CI 1.1-5.0；P=0.021）也高于对照者。
