孤立性和散发性人类正中多生牙与基因中的同义变异有关。

Isolated and Sporadic Human Mesiodens Is Associated with a Synonymous Variant in the Gene.

机构信息

Dr. Jo is a graduate student, College of Dentistry, Yonsei University, Seoul, Korea.

Dr. Ji Hyun Lee is an associate professor, Department of Clinical Pharmacology and Therapeutics, and an associate professor, Department of Life and Nanopharmaceutical Sciences, College of Medicine, Kyung Hee University, and an associate professor, Department of Biomedical Science and Technology, Kyung Hee Medical Science Research Institute, Kyung Hee University, in Seoul, Korea.

出版信息

Pediatr Dent. 2021 Jan 15;43(1):39-43.

PMID:33662249

Abstract

The purpose of this study was to use targeted next-generation sequencing (NGS) to identify possible causative genes for isolated and sporadic human mesiodens. The targeted panel consisted of 101 target genes related to tooth development. NGS of this panel was initially performed on a discovery set (39 cases and 27 controls); association tests were performed after genotyping of nine selected variants in a validation set (57 cases and 56 controls). Among these nine variants, a synonymous variant, ACVR2A (rs1128919) associated with mesiodens was identified. Moreover, in silico analysis was performed and demonstrated the instability of mRNA with the G allele. The formation of isolated and sporadic human mesiodens is associated with a synonymous variation in ACVR2A (rs1128919).

摘要

本研究旨在使用靶向下一代测序（NGS）鉴定孤立性和散发性人类正中牙的可能致病基因。该靶向panel 由 101 个与牙齿发育相关的靶基因组成。对发现集（39 例和 27 例对照）进行了 NGS 分析；对验证集（57 例和 56 例对照）中的九个选定变体进行基因分型后，进行了关联测试。在这九个变体中，鉴定到与正中牙相关的同义变体 ACVR2A（rs1128919）。此外，进行了计算机分析，并证明了携带 G 等位基因的 mRNA 不稳定性。孤立性和散发性人类正中牙的形成与 ACVR2A（rs1128919）的同义变异有关。