作者
Wanlin Lai, Yiming Wu, Leihao Sha, Qi Lai, Ximeng Yang, Fandi Ai, Qian Zhang, Fengxiao Bu, Shixu He, Xi Zhu, Lei Chen
发表日期
2024/3/1
期刊
Neuroendocrinology
卷号
114
期号
3
页码范围
223-233
出版商
S. Karger AG
简介
Introduction
Women with epilepsy (WWE) are more likely to develop reproductive endocrine disorders, especially polycystic ovary syndrome (PCOS). This study aimed to explore the genetic factors of PCOS in WWE in hope of improving individual precision diagnosis and treatment. Methods
WWE registered at West China Hospital between January 2022 and October 2022 were enrolled in this study. Demographic and epilepsy-related characteristics were recorded, and blood samples were collected for hormones, glucose metabolism testing, and whole-genome sequencing. Results
After sample sequencing, quality control, and variants selection, association analyses were performed. Pathway analysis was performed to identify involved biological pathways. The overall and PCOS “burden score” of each individual were calculated to count the deleterious variants. A total of 95 WWE were included in this study and 19 …学术搜索中的文章
W Lai, Y Wu, L Sha, Q Lai, X Yang, F Ai, Q Zhang, F Bu… - Neuroendocrinology, 2024