The Relationship Among Genetic Heritability, Environmental Effects, and Autism Spectrum Disorders: 37 Pairs of Ascertained Twin Study

The Relationship Among Genetic Heritability, Environmental Effects, and Autism Spectrum Disorders: 37 Pairs of Ascertained Twin Study
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DOI:
10.1177/0883073815580645
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发表时间:
2015-11-01
影响因子:
1.9
通讯作者:
Guo, Xiaobo
Guo, Xiaobo
中科院分区:
医学4区
文献类型:
--
作者:
Deng, Wenlin;Zou, Xiaobing;Guo, Xiaobo

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自闭症谱系障碍(ASD)包括一组具有很强遗传性的不同类型的神经发育障碍。为了更好地了解临床诊断为ASD的双生子的遗传因素,探讨社会功能障碍与遗传和环境因素的关系。在过去的13年里,儿童发育和行为中心共诊断了12000多例ASD,作者回顾了37对这样的双胞胎,每对中至少有1对被诊断为ASD,结果发现,同卵双胞胎的符合率为80%[95%可信区间(CI)51.9-95.7%],异卵双胞胎的符合率为13.6%(95%可信区间:2.9-34.9%)。社会功能障碍的遗传度为60.9%(95%CI:47.3~74.5%)。环境因素非共享率为39.1%(95%CI:25.5~52.7%),无共享性环境效应。遗传学和特殊环境效应在ASD社会损害中起着重要作用。
Autism spectrum disorders (ASD) comprise a heterogeneous group of neurodevelopmental disorders that have strong heritability. To better understand the heritable factors in twins with clinically diagnosed ASD and to discuss the relationship between social impairments and genetic and environmental factors. In last 13 years, over 12,000 cases of ASD were diagnosed in the children's development and behavior center, the authors review 37 pairs of these twins, in each pair, and at least 1 twin had been diagnosed with an ASD, and found that the concordance rate was 80% [95% confidence interval (CI) 51.9-95.7%] for monozygotic twins and 13.6% (95% CI: 2.9-34.9%) for dizygotic twins. The heritability of social impairments for ASD was 60.9% (95% CI: 47.3-74.5%). In addition, the rate of nonshared environmental factors was 39.1% (95% CI: 25.5-52.7%), and there were no shared environmental effects. Genetics and special environmental effect play an important role on ASD social impairments.