Abstract：
22q11.2 deletion syndrome (22q11DS) is a clinically heterogeneous genetic syndrome, associated with a wide array of neuropsychiatric symptoms. The clinical presentation is likely to be influenced by environmental factors, yet little is known about this. Here, we review the available research literature on the role of the environment in 22q11DS. We find that within-patient design studies have mainly investigated the role of parental factors, stress, and substance use, reporting significant effects of these factors on the clinical profile. Case-control studies have been less successful, with almost no reports of significant moderating effects of the environment. We go on to hypothesize which specific environmental measures are most likely to interact with the 22q11 deletion, based on the genes in this region and their involvement in molecular pathways. We end by discussing potential reasons for the limited findings so far, including modest sample sizes and limited availability of environmental measures, and make recommendations how to move forward.
摘要：
22q11.2缺失综合征(22q11DS)是一种临床异质性遗传综合征,与广泛的神经精神症状有关。临床表现可能受环境因素的影响，然而对此知之甚少。这里,我们回顾了有关22q11DS中环境作用的现有研究文献。我们发现，患者内部设计研究主要调查了父母因素的作用，压力，和物质使用，报告这些因素对临床特征的显著影响。病例对照研究不太成功，几乎没有关于环境显著调节作用的报道。我们继续假设哪些特定的环境措施最有可能与22q11删除相互作用，基于该区域的基因及其在分子途径中的参与。最后，我们讨论了迄今为止发现有限的潜在原因，包括适度的样本量和有限的环境措施，并提出如何前进的建议。
