Exome sequencing identifies novel genes associated with cerebellar volume and microstructure.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Ole A Andreassen, Yanmei Feng, Chenwei Hao, Xiaoyan Hao, Mengjie Li, Shuangjie Li, Yuanyuan Liang, Dongrui Ma, Shasha Qi, Changhe Shi, Shilei Sun, Yuemeng Sun, Yunpeng Wang, Zhiyun Wang, Yu-Ming Xu, Chunyan Zuo

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Communications biology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 741264

Proteins encoded by exons are critical for cellular functions, and mutations in these genes often result in significant phenotypic effects. The cerebellum is linked to various heritable human disease phenotypes, yet genome-wide association studies have struggled to capture the effects of rare variants on cerebellar traits. This study conducts a large-scale exome association analysis using data from approximately 35,000 UK Biobank participants, examining seven cerebellar traits, including total cerebellar volume and white matter microstructure. We identify 90 genes associated with cerebellar traits, 60 of which were previously unreported in genome-wide association studies. Notable findings include the discovery of genes like PRKRA and TTK, as well as RASGRP3, linked to cerebellar volume and white matter microstructure. Gene enrichment analysis reveals associations with non-coding RNA processing, cognitive function, neurodegenerative diseases, and mental disorders, suggesting shared biological mechanisms between cerebellar phenotypes and neuropsychiatric diseases.
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH