Heritability of autism spectrum disorders: a meta-analysis of twin studies.
Heritability of autism spectrum disorders: a meta-analysis of twin studies.
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DOI：
10.1111/jcpp.12499
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发表时间：
2016-05
期刊：
影响因子：
--
通讯作者：
Rijsdijk F
中科院分区：
文献类型：
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作者：
Tick B;Bolton P;Happé F;Rutter M;Rijsdijk F
自闭症谱系障碍(ASD)的病因学最近一直在争论，因为关于共享环境影响的重要性的新发现。然而，最近的两项双胞胎研究并不支持这一点，而是重新确认了患自闭症的强烈遗传效应，这一发现与之前的报告一致。这项研究对迄今为止发表的所有ASD双生子研究进行了系统的回顾和荟萃分析，并沿着ASD定量测量的连续体探索其病因。一个PubMed Central，Science Direct，Google Scholar，Web of Knowledge在线进行结构化搜索，以确定迄今为止发表的所有关于ASD的双胞胎研究。确定了13项初级双胞胎研究，其中7项符合系统性招募标准的荟萃分析；对选择和确定策略进行了更正，并对这些研究的应用普及率进行了评估。此外，对包括患病双胞胎在内的6413对双胞胎的总体样本中测量的儿童自闭症光谱测试分数进行了分位数DF极值分析。同卵双胞胎(MZ)的荟萃分析相关性几乎完美，为0.98(95%可信区间，0.96-0.99)。然而，当ASD患病率设置为5%(与ASD的广泛表型一致)时，双合子(DZ)相关性为0.53(95%可信区间.44-0.60)，而当患病率为1%时，其相关性增加到0.67(95%可信区间.61-0.72)。元分析的遗传度估计是相当可观的：-91%。随着患病率从5-1%下降到07-35%，共享环境影响变得显著。DF分析表明，遗传力在很大程度上没有偏离线性。我们证明：(A)ASD是由于强烈的遗传效应；(B)共同的环境影响作为较低患病率的函数变得显著；(C)先前报告的重大共同的环境影响可能是过度包含协调一致的DZ双胞胎的统计假象。
The etiology of Autism Spectrum Disorder (ASD) has been recently debated due to emerging findings on the importance of shared environmental influences. However, two recent twin studies do not support this and instead re‐affirm strong genetic effects on the liability to ASD, a finding consistent with previous reports. This study conducts a systematic review and meta‐analysis of all twin studies of ASD published to date and explores the etiology along the continuum of a quantitative measure of ASD. A PubMed Central, Science Direct, Google Scholar, Web of Knowledge structured search conducted online, to identify all twin studies on ASD published to date. Thirteen primary twin studies were identified, seven were included in the meta‐analysis by meeting Systematic Recruitment criterion; correction for selection and ascertainment strategies, and applied prevalences were assessed for these studies. In addition, a quantile DF extremes analysis was carried out on Childhood Autism Spectrum Test scores measured in a population sample of 6,413 twin pairs including affected twins. The meta‐analysis correlations for monozygotic twins (MZ) were almost perfect at .98 (95% Confidence Interval, .96–.99). The dizygotic (DZ) correlation, however, was .53 (95% CI .44–.60) when ASD prevalence rate was set at 5% (in line with the Broad Phenotype of ASD) and increased to .67 (95% CI .61–.72) when applying a prevalence rate of 1%. The meta‐analytic heritability estimates were substantial: 64–91%. Shared environmental effects became significant as the prevalence rate decreased from 5–1%: 07–35%. The DF analyses show that for the most part, there is no departure from linearity in heritability. We demonstrate that: (a) ASD is due to strong genetic effects; (b) shared environmental effects become significant as a function of lower prevalence rate; (c) previously reported significant shared environmental influences are likely a statistical artefact of overinclusion of concordant DZ twins.