NR4A1 基因 Arg293Ser 新突变与家族性克罗恩病的相关性研究
Novel NR4A1 Arg293Ser Mutation in Patients With Familial Crohn's Disease.
机构信息
Department of Pathology and Molecular Diagnostics, Aichi Cancer Center, Aichi, Japan;
Division of Integrated Oncology, Institute of Biomedical Research and Innovation, Kobe, Japan.
出版信息
In Vivo. 2021 Jul-Aug;35(4):2135-2140. doi: 10.21873/invivo.12483.
BACKGROUND/AIM: The underlying etiology of Crohn's disease remains unknown. The aim of this study was to identify genomic alterations associated with the development of Crohn's disease in one Japanese family with a family history of Crohn's disease.
MATERIALS AND METHODS
We performed whole-exome sequence and pedigree analysis of a Japanese family in which both sisters developed Crohn's disease. Whole-exome sequencing was performed using the Ion Torrent Proton™ system. Data from the Proton runs were initially processed using the Ion Torrent platform-specific pipeline software Ion Reporter. An autosomal dominant mode of inheritance was assumed, and stringent selection criteria were applied.
RESULTS
A substitution in the NR4A1 gene at codon 293 resulting in an amino acid change from arginine to serine was identified only in the affected sisters.
CONCLUSION
The impaired DNA-binding capacity of the NR4A1 protein due to an NR4A1 germline mutation may be a possible cause of Crohn's disease.
背景/目的：克罗恩病的潜在病因尚不清楚。本研究的目的是鉴定与一个有克罗恩病家族史的日本家族中克罗恩病发展相关的基因组改变。
材料和方法
我们对患有克罗恩病的两姐妹的日本家族进行了全外显子组序列和家系分析。使用 Ion Torrent Proton™系统进行全外显子组测序。质子运行的数据最初使用 Ion Reporter 进行处理，这是一个针对 Ion Torrent 平台的特定管道软件。假设存在常染色体显性遗传模式，并应用了严格的选择标准。
结果
仅在受影响的姐妹中发现 NR4A1 基因第 293 位密码子的替换，导致精氨酸变为丝氨酸。
结论
由于 NR4A1 种系突变导致 NR4A1 蛋白的 DNA 结合能力受损，可能是克罗恩病的一个潜在病因。
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