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<p>The brainstem houses numerous nuclei and tracts that serve vital functions. Genome-wide associations with brainstem substructure volumes have been explored in European individuals, yet other ancestries remain under-represented. Here, we conduct cross-ancestry genome-wide association meta-analyses in 103,098 individuals for brainstem and 78,062 individuals for eight substructure volumes, including 7094 Chinese Han individuals. We identify 713 locus-trait associations with brainstem and substructure volumes at <i>P</i> &lt; 5.56 ×10<sup>−9</sup>, comprising 569 new associations. Two associations show different effect sizes, while 496 associations have similar effect sizes between ancestries. We prioritize 186 genes associated with brainstem volumetric traits. We find both shared and distinct genetic loci, genes, and pathways for midbrain, pons, and medulla volumes, along with the shared genetic architectures related to disease phenotypes and physiological functions. The results provide new insights into the genetic architectures of brainstem and substructure volumes and their genetic associations with brainstem physiologies and pathologies.</p>

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The genetic architecture of brainstem structures

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月10日

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  • Hui Xue,
  • Jilian Fu,
  • Zuojun Geng,
  • Jingliang Cheng,
  • Meiyun Wang,
  • Longjiang Zhang,
  • Guangbin Cui,
  • Yongqiang Yu,
  • Weihua Liao,
  • Hui Zhang,
  • Bo Gao,
  • Xiaojun Xu,
  • Tong Han,
  • Zhenwei Yao,
  • Quan Zhang,
  • Wen Qin,
  • Feng Liu,
  • Meng Liang,
  • Sijia Wang,
  • Qiang Xu,
  • Jiayuan Xu,
  • Caihong Wang,
  • Nana Liu,
  • Yuan Ji,
  • Peng Zhang,
  • Wei Li,
  • Wei Wei,
  • Dapeng Shi,
  • Su Lui,
  • Zhihan Yan,
  • Feng Chen,
  • Jing Zhang,
  • Wen Shen,
  • Yanwei Miao,
  • Dawei Wang,
  • Jia-Hong Gao,
  • Yunjun Yang,
  • Kai Xu,
  • Junfang Xian,
  • Bing Zhang,
  • Xiaochu Zhang,
  • Xi-Nian Zuo,
  • Mulin Jun Li,
  • Zhaoxiang Ye,
  • Shijun Qiu,
  • Wenzhen Zhu,
  • Chunshui Yu,
  • Quan Zhang,
  • Junping Wang,
  • Xue Zhang,
  • Xinjun Suo,
  • Congcong Yuan,
  • Tianying Gao,
  • Junpeng Liu,
  • Yanjun Li,
  • Xi Guo,
  • Lixue Xu,
  • Jiajia Zhu,
  • Huaigui Liu,
  • Fangshi Zhao,
  • Jie Sun,
  • Yongjie Xu,
  • Huanhuan Cai,
  • Jie Tang,
  • Yaodan Zhang,
  • Yongqin Xiong,
  • Xianting Sun,
  • Nannan Pan,
  • Xue Zhang Jr.,
  • Jiayang Yang,
  • Ya Wen,
  • Dan Zhu,
  • Bingjie Wu,
  • Wenshuang Zhu,
  • Qingqing Diao,
  • Yujuan Cao,
  • Bingbing Yang,
  • Lining Guo,
  • Yingying Xie,
  • Jiahui Lin,
  • Zhimin Li,
  • Yan Zhang,
  • Kaizhong Xue,
  • Zirui Wang,
  • Junlin Shen,
  • Xuejun Zhang,
  • Hao Ding,
  • Qian Su,
  • Shijie Zhang,
  • Jianhua Wang,
  • Lun Ma,
  • Yan Bai,
  • Min Guan,
  • Peifang Miao,
  • Fuhong Duan,
  • Yafei Guo,
  • Weijian Wang,
  • Lijuan Zheng,
  • Li Lin,
  • Yunfei Wang,
  • Han Zhang,
  • Xinyuan Zhang,
  • Zhao Qing,
  • Sichu Wu,
  • Junxia Wang,
  • Yi Sun,
  • Yang He,
  • Zhe Zhang,
  • Yin-Shan Wang,
  • Quan Zhou,
  • Tian Tian,
  • Yi Liang,
  • Yujie Liu,
  • Hui Zeng,
  • Jingxian Chen,
  • Haitao Ge,
  • Peng Xu,
  • Cailuan Lu,
  • Chen Wu,
  • Xiaoying Yang,
  • Yuzhao Wang,
  • Yankai Wu,
  • Xuran Feng,
  • Ling Li,
  • Duo Gao,
  • Rujing Zha,
  • Ying Li,
  • Lizhuang Yang,
  • Ying Chen,
  • Ling Zuo,
  • Jianqiao Ge,
  • Guoyuan Yang,
  • Wen Wang,
  • Linfeng Yan,
  • Yang Yang,
  • Jin Zhang,
  • Qian Wang,
  • Xiaoxia Qu,
  • Ying Wang,
  • Fei Yuan,
  • Li Hu,
  • Jizhen Li,
  • Weiwei Wang,
  • Yujing Zhou,
  • Miaomiao Long,
  • Lihua Liu,
  • Xiaohu Li,
  • Xiaoshu Li,
  • Jiance Li,
  • Nengzhi Xia,
  • Shuai Yang,
  • Youming Zhang,
  • Guangyao Liu,
  • Laiyang Ma,
  • Xiaochun Wang,
  • Ying Lei,
  • Gang Zhang,
  • Kang Yuan,
  • Jingjing Xu,
  • Xiaojun Guan,
  • Yuankai Lin,
  • Huijuan Chen,
  • Yuchuan Fu,
  • Yi Lu,
  • Jun Guo,
  • Hao Lu,
  • Yue Wu

摘要

The brainstem houses numerous nuclei and tracts that serve vital functions. Genome-wide associations with brainstem substructure volumes have been explored in European individuals, yet other ancestries remain under-represented. Here, we conduct cross-ancestry genome-wide association meta-analyses in 103,098 individuals for brainstem and 78,062 individuals for eight substructure volumes, including 7094 Chinese Han individuals. We identify 713 locus-trait associations with brainstem and substructure volumes at P < 5.56 ×10−9, comprising 569 new associations. Two associations show different effect sizes, while 496 associations have similar effect sizes between ancestries. We prioritize 186 genes associated with brainstem volumetric traits. We find both shared and distinct genetic loci, genes, and pathways for midbrain, pons, and medulla volumes, along with the shared genetic architectures related to disease phenotypes and physiological functions. The results provide new insights into the genetic architectures of brainstem and substructure volumes and their genetic associations with brainstem physiologies and pathologies.