MIND Institute, University of California at Davis Medical Center, Sacramento, California 95817, USA.
Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(8):923-8. doi: 10.1002/ajmg.b.31237. Epub 2011 Sep 19.
This report seeks to establish the prevalence of sleep apnea in patients with the fragile X mental retardation 1 (FMR1) premutation with and without fragile X-associated tremor/ataxia syndrome (FXTAS) and to determine any correlation between CGG repeat and FMR1 mRNA levels with sleep apnea prevalence. Demographic and medical data from 430 (229 males, 201 females) participants were used in this analysis. Participants included premutation carriers with (n = 118) and without FXTAS (n = 174) as well as controls without the premutation (n = 123). Logistic regression models were employed to estimate the odds ratio of sleep apnea relative to controls, adjusted for age and gender, and also to examine potential association with CGG size and FMR1 mRNA expression level. The observed proportion of sleep apnea in premutation carriers with and without FXTAS and controls are 31.4% (37/118), 8.6% (15/174), and 13.8% (17/123), respectively. The adjusted odds of sleep apnea for premutation carriers with FXTAS is about 3.4 times that compared to controls (odds ratio, OR = 3.4, 95% confidence interval (CI) 1.8-7.4; P = 0.001), and similarly relative to premutation carriers without FXTAS (OR = 2.9, 95% CI 1.2-6.9; P = 0.014). The risk of sleep apnea was not different between controls and premutation carriers without FXTAS. The presence of sleep apnea is not associated with CGG repeat numbers nor FMR1 mRNA expression level among premutation carriers. Our data supports a higher prevalence and risk of sleep apnea in patients with FXTAS. We recommend that all patients diagnosed with FXTAS be screened for sleep apnea given the negative and perhaps accelerative impact sleep apnea may have on their FXTAS progression.
本报告旨在确定脆性 X 智力低下 1 号（FMR1）前突变伴或不伴脆性 X 相关震颤/共济失调综合征（FXTAS）患者的睡眠呼吸暂停患病率，并确定 CGG 重复与 FMR1 mRNA 水平与睡眠呼吸暂停患病率之间的任何相关性。该分析使用了 430 名参与者（229 名男性，201 名女性）的人口统计学和医学数据。参与者包括前突变携带者（n=118）和无 FXTAS（n=174）以及无前突变的对照者（n=123）。采用逻辑回归模型估计睡眠呼吸暂停相对于对照组的优势比，调整年龄和性别，并检查与 CGG 大小和 FMR1 mRNA 表达水平的潜在关联。前突变携带者伴或不伴 FXTAS 以及对照组的睡眠呼吸暂停发生率分别为 31.4%（37/118）、8.6%（15/174）和 13.8%（17/123）。有 FXTAS 的前突变携带者发生睡眠呼吸暂停的调整优势比约为对照组的 3.4 倍（优势比，OR=3.4，95%置信区间（CI）1.8-7.4；P=0.001），与无 FXTAS 的前突变携带者相比也相似（OR=2.9，95%CI 1.2-6.9；P=0.014）。有 FXTAS 的前突变携带者与无 FXTAS 的前突变携带者之间，睡眠呼吸暂停的风险没有差异。在携带前突变的患者中，睡眠呼吸暂停的发生与 CGG 重复次数或 FMR1 mRNA 表达水平无关。我们的数据支持 FXTAS 患者中睡眠呼吸暂停的患病率和风险更高。鉴于睡眠呼吸暂停可能对 FXTAS 进展产生负面影响甚至加速作用，我们建议所有诊断为 FXTAS 的患者都进行睡眠呼吸暂停筛查。
