Article
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.
Journal of medical genetics - 20 Jun 2024
Wen Wen, Zhao Zhengye, Zheng Zhifa, Zhao Sen, Zhao Hengqiang, Cheng Xi, Du Huakang, Li Ziquan, Wang Shengru, Qiu Guixing, Wu Zhihong, Zhang Terry Jianguo, Wu Nan
Abstract excerpt
BACKGROUND: Adolescent idiopathic scoliosis (AIS), the predominant genetic-influenced scoliosis, results in spinal deformities without vertebral malformations. However, the molecular aetiology of AIS remains unclear. METHODS: Using genome/exome sequencing, we studied 368 patients with severe AIS (Cobb angle >40°) and 3794 controls from a Han Chinese cohort. We performed gene-based and pathway-based weighted rare...
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