小柯机器人

天津医科大学总医院Chunshui Yu，中国科学院肿瘤防治重点实验室Zhaoxiang Ye和郑州大学人民医院Meiyun Wang共同合作，近期取得重要工作进展。他们对海马体及其亚区体积进行了跨祖先全基因组关联荟萃分析。相关研究成果2023年6月19日在线发表于《自然—遗传学》杂志上。

据介绍，海马体对记忆、认知和神经精神障碍至关重要，其亚区在结构和功能上有所不同。关于海马及其亚区体积的全基因组关联研究主要在欧洲人群中进行，在其他祖先群体中的代表性不足。

研究人员对65791名个体的海马体体积和38977名个体的亚区体积进行了跨血统全基因组关联荟萃分析，其中包括7009名东亚祖先个体。研究人员确定了339个变体-性状关联，P值小于1.13 × 10^-9，涵盖44种海马体性状，其中包括23个新的关联。常见的遗传变异对不同祖先的海马特征有相似的影响，尽管存在特定祖先的关联。在代表性不足的群体中，交叉祖先分析提高了精细映射精度和多基因评分的预测性能。这些基因变异丰富了Wnt信号传导和神经元分化，并影响认知、情绪和神经精神障碍。

总之，这些发现可能为海马及其亚区体积的遗传架构提供深入的理解。

附：英文原文

Title: Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes

Author: Liu, Nana, Zhang, Longjiang, Tian, Tian, Cheng, Jingliang, Zhang, Bing, Qiu, Shijun, Geng, Zuojun, Cui, Guangbin, Zhang, Quan, Liao, Weihua, Yu, Yongqiang, Zhang, Hui, Gao, Bo, Xu, Xiaojun, Han, Tong, Yao, Zhenwei, Qin, Wen, Liu, Feng, Liang, Meng, Xu, Qiang, Fu, Jilian, Xu, Jiayuan, Zhu, Wenzhen, Zhang, Peng, Li, Wei, Shi, Dapeng, Wang, Caihong, Lui, Su, Yan, Zhihan, Chen, Feng, Li, Jiance, Zhang, Jing, Wang, Dawei, Shen, Wen, Miao, Yanwei, Xian, Junfang, Gao, Jia-Hong, Zhang, Xiaochu, Li, Mulin Jun, Xu, Kai, Zuo, Xi-Nian, Wang, Meiyun, Ye, Zhaoxiang, Yu, Chunshui

Issue&Volume: 2023-06-19

Abstract: The hippocampus is critical for memory and cognition and neuropsychiatric disorders, and its subfields differ in architecture and function. Genome-wide association studies on hippocampal and subfield volumes are mainly conducted in European populations; however, other ancestral populations are under-represented. Here we conduct cross-ancestry genome-wide association meta-analyses in 65,791 individuals for hippocampal volume and 38,977 for subfield volumes, including 7,009 individuals of East Asian ancestry. We identify 339 variant–trait associations at P<1.13×109 for 44 hippocampal traits, including 23 new associations. Common genetic variants have similar effects on hippocampal traits across ancestries, although ancestry-specific associations exist. Cross-ancestry analysis improves the fine-mapping precision and the prediction performance of polygenic scores in under-represented populations. These genetic variants are enriched for Wnt signaling and neuron differentiation and affect cognition, emotion and neuropsychiatric disorders. These findings may provide insight into the genetic architectures of hippocampal and subfield volumes.

DOI: 10.1038/s41588-023-01425-8

Source: https://www.nature.com/articles/s41588-023-01425-8

Nature Genetics：《自然—遗传学》，创刊于1992年。隶属于施普林格·自然出版集团，最新IF：41.307
官方网址：https://www.nature.com/ng/
投稿链接：https://mts-ng.nature.com/cgi-bin/main.plex