Chaste Pauline, Leboyer Marion
INSERM U 955, IMRB, Psychiatry Genetics, Creteil, France.
Dialogues Clin Neurosci. 2012 Sep;14(3):281-92. doi: 10.31887/DCNS.2012.14.3/pchaste.
The aim of this review is to summarize the key findings from genetic and epidemiological research, which show that autism is a complex disorder resulting from the combination of genetic and environmental factors. Remarkable advances in the knowledge of genetic causes of autism have resulted from the great efforts made in the field of genetics. The identification of specific alleles contributing to the autism spectrum has supplied important pieces for the autism puzzle. However, many questions remain unanswered, and new questions are raised by recent results. Moreover, given the amount of evidence supporting a significant contribution of environmental factors to autism risk, it is now clear that the search for environmental factors should be reinforced. One aspect of this search that has been neglected so far is the study of interactions between genes and environmental factors.
本综述的目的是总结遗传和流行病学研究的主要发现,这些研究表明自闭症是一种由遗传和环境因素共同作用导致的复杂疾病。遗传学领域的巨大努力使自闭症遗传病因的认识取得了显著进展。对自闭症谱系有贡献的特定等位基因的识别为自闭症难题提供了重要线索。然而,许多问题仍未得到解答,近期的研究结果又引发了新的问题。此外,鉴于有大量证据支持环境因素对自闭症风险有重大影响,目前很明显应加强对环境因素的探索。到目前为止,这一探索中被忽视的一个方面是基因与环境因素之间相互作用的研究。