Epidemiology of fragile X syndrome: A systematic review and meta-analysis
Epidemiology of fragile X syndrome: A systematic review and meta-analysis
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DOI：
10.1002/ajmg.a.36511
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发表时间：
2014-07-01
影响因子：
2
通讯作者：
Leal, Jose
中科院分区：
文献类型：
--
作者：
Hunter, Jessica;Rivero-Arias, Oliver;Leal, Jose
脆性X综合征的患病率估计差异很大。本系统性综述和荟萃分析的目的是使用PubMed、Embase和科克伦图书馆中的主要出版物提供该疾病的准确患病率估计。使用贝叶斯固定效应和随机效应模型合并数据。主要分析评估了总人群中男性和女性的全突变和前突变频率（对智力残疾个体无偏倚）以及正常人群中前突变女性携带者（对智力残疾个体有偏倚），基于聚合酶链反应或Southern印迹诊断。敏感性分析包括使用任何诊断检测方法的研究和会议摘要。68个记录的观察结果为主要（56个观察结果）和敏感性（12个观察结果）分析提供了数据。使用随机效应模型，总人群中完全突变的频率为1.4（95% CI：0.1-3.1）/10，000男性和0.9（95% CI：0.0-2.9）/10，000女性（分别为1：7，143和1：11，111）。在总人群中，前突变频率为11.7（95%CI：6.0-18.7）/10，000男性和34.4（95%CI：6.3-83.3）/10，000女性（分别为1：855和1：291）。正常人群中前突变女性携带者的患病率为34.4/10，000（95%CI：8.9-60.3），或1：291。敏感性分析得出相似的患病率估计值，但异质性更大。从这个荟萃分析的患病率估计为全突变低于脆性X综合征流行病学数据的审查。(c)2014 Wiley Periodicals，Inc.
Prevalence estimates for fragile X syndrome vary considerably. This systematic review and meta-analysis was conducted to provide an accurate prevalence estimate for this disorder using primary publications in PubMed, Embase, and the Cochrane library. Data were pooled using Bayesian fixed-effects and random-effects models. Primary analyses assessed the frequency of the full mutation and premutation in males and females in the total population (no bias against individuals with intellectual disability) and in female carriers of the premutation in normal populations (biased against individuals with intellectual disability), based on diagnosis by polymerase chain reaction or Southern blotting. A sensitivity analysis included studies using any diagnostic testing method and conference abstracts. Sixty-eight recorded observations provided data for the primary (56 observations) and sensitivity (12 observations) analysis. Using the random-effects model, frequency of the full mutation was 1.4 (95% CI: 0.1-3.1) per 10,000 males and 0.9 (95% CI: 0.0-2.9) per 10,000 females (1:7,143 and 1:11,111, respectively) in the total population. The premutation frequency was 11.7 (95% CI: 6.0-18.7) per 10,000 males and 34.4 (95% CI: 6.3-83.3) per 10,000 for females (1:855 and 1:291, respectively) in the total population. The prevalence of female carriers of the premutation in the normal population was 34.4 (95% CI: 8.9-60.3) per 10,000, or 1:291. Sensitivity analyses resulted in similar prevalence estimates but with wider heterogeneity. Prevalence estimates for the full mutation from this meta-analysis are lower than those in previous reviews of fragile X syndrome epidemiological data. (c) 2014 Wiley Periodicals, Inc.