Lin Min-Rou, Chou Po-Hsin, Huang Kuei-Jung, Ting Jafit, Liu Chia-Ying, Chou Wan-Hsuan, Lin Gan-Hong, Chang Jan-Gowth, Ikegawa Shiro, Wang Shih-Tien, Chang Wei-Chiao
Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan.
Department of Orthopedics and Traumatology, Taipei Veterans General Hospital, Taipei 112, Taiwan.
J Pers Med. 2022 Dec 23;13(1):32. doi: 10.3390/jpm13010032.
Adolescent idiopathic scoliosis (AIS) is a three-dimensional spinal curvature deformity that appears in the adolescent period. In this study, we performed whole-exome sequencing on 11 unrelated Taiwanese patients with a Cobb's angle greater than 40 degrees. Our results identified more than 200 potential pathogenic rare variants, however, most of which were carried only by one individual. By in silico pathogenicity annotation studies, we found that , , and were the most important genes, as multiple pathogenic variants were within these genes. Furthermore, biological functional annotation indicated critical roles of these AIS candidate genes in the skeletal muscle. Importantly, a pathogenic variant on was shared by over 35% of the patients. These results highlighted , , and as the most likely susceptibility genes for severe AIS.
青少年特发性脊柱侧凸（AIS）是一种出现在青少年时期的三维脊柱侧弯畸形。在本研究中，我们对11名科布角大于40度的非亲属台湾患者进行了全外显子组测序。我们的结果鉴定出200多个潜在的致病性罕见变异，然而，其中大多数仅由一名个体携带。通过计算机致病性注释研究，我们发现， ，以及 是最重要的基因，因为多个致病性变异存在于这些基因中。此外，生物学功能注释表明这些AIS候选基因在骨骼肌中起关键作用。重要的是，超过35%的患者共享 上的一个致病性变异。这些结果突出了 ，以及 作为重度AIS最可能的易感基因。
