自閉症類群障礙症的遺傳學在亞洲的研究

Genetic Studies of Autism Spectrum Disorder in Asians

自閉症類群障礙症的遺傳學研究已經發展了三十多年，早期的孿生子與家庭研究為自閉 症類群障礙症發展中的遺傳學角色提供了許多證據，而更多近期的分子學研究技術則已辨識 出超過400 個在自閉症類群障礙症致病機轉中潛在相關的基因，但這些基因中有許多也同時 被發現與其他的神經精神疾病相關。這三十餘年來的遺傳學領域研究結果認為，自閉症類群 障礙症作為一種異質性的臨床疾病，也有著異質性的遺傳學致病因子。本篇綜述主要聚焦於 種族差異在異質性遺傳學致病因子中的所扮演的潛在角色。在本篇綜述中，作者企圖蒐集所 有可得且已發表之亞洲人種的自閉症類群障礙症遺傳學研究，以從中找出未來比較亞洲與西 方關於自閉症類群障礙症遺傳學研究的方向。本篇的結論是，亞洲關於自閉症類群障礙症遺 傳學研究的數量仍相當有限，但其中已有部分研究發現某些自閉症類群障礙症的候選基因確 實存在種族差異。

The genetics of autism spectrum disorder (ASD) has been studied for more than three decades. Earlier twin and family studies have provided some support for a genetic rȏle in the development of ASD. More recent molecular techniques have identifi ed more than 400 potential genes involved in etiology of ASD. But many of the genes have also been identifi ed as potential genes for other neuropsychiatric disorders. The field of ASD genetics has concluded that ASD as defi ned for the last three decades is a heterogeneous clinical disorder with heterogeneous genetic etiologies. This overview is to focus on the ethnic differences as a potential factor of the heterogeneous etiologies. In this overview, the author attempts to compile all available published ASD genetic studies in Asian populations to explore the directions for future comparisons between Asian and Western ASD genetic studies. It is concluded that the quantity of the Asian ASD genetic studies is still quite limited, though there are a few studies indeed have found some ethnic differences in certain candidate genes for ASD.