Accès ouvert déclaré 2026 article

Genome-wide association studies of brain diffusion kurtosis imaging phenotypes

Jilian Fu, Yi-Xiang Wang, Hui Xue, Meiyun Wang, Bing Zhang, Wenzhen Zhu, Shijun Qiu, Zuojun Geng, Guangbin Cui, Quan Zhang, Yongqiang Yu, Weihua Liao, Bo Gao, Xiaojun Xu, Tong Han, Zhenwei Yao, M T Li, Feng Liu, Meng Liang, Sijia Wang, Qiang Xu, Jiayuan Xu, Peng Zhang, Wei Li, Dapeng Shi, Caihong Wang, Su Lui, Zhihan Yan, Feng Chen, Jing Zhang, Jiance Li, Wen Shen, Yanwei Miao, Dawei Wang, Junfang Xian, J Gao, Xiaochu Zhang, Kai Xu, Xi-Nian Zuo, L J Zhang, Zhaoxiang Ye, Jingliang Cheng, Wen Qin, Wen Qin, Hui Zhang, Chunshui Yu, Quan Zhang, Junping Wang, Xinjun Suo, Congcong Yuan, Yuan Ji, 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, Jiayang Yang, Nana Liu, 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, Shijie Zhang, Hao Ding, Qian Su, Sijia Wang, Jianhua Wang, Meiyun Wang, Lun Ma, Yan Bai, Min Guan, Wei Wei, Caihong Wang, Peifang Miao, Fuhong Duan, Yafei Guo, Weijian Wang, Xi Zhang, Lijuan Zheng, Li Lin, Yunfei Wang, Han Zhang, Xinyuan Zhang, Bing Zhang, Zhao Qing, Sichu Wu, Junxia Wang, Yi Sun, Yang He, Zhe Zhang, Yinshan Wang, Quan Zhou, Wenzhen Zhu, Tian Tian, YI LIANG, Yujie Liu, Hui Zeng, Jingxian Chen, Kai Xu, Haitao Ge, Peng Xu, Cailuan Lu, Chen Lester 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, Junfang Xian, Qian Wang, Xiaoxia Qu, Ying Wang, Fei Yuan, Li Hu, Jizhen Li, Weiwei Wang, Yujing Zhou, Miaomiao Long, Lihua Liu, Xiaohu Li, Xiaoshu Li, Yunjun Yang, Nengzhi Xia, S. Yang, Youming Zhang, Guangyao Liu, Laiyang Ma, Xiaochun Wang, Ying Lei, Gang Zhang, Kang Yuan, Jingjing Xu, Xiaojun Guan, Feng Chen, Yuankai Lin, Huijuan Chen, Zhihan Yan, Yuchuan Fu, Yi Lu, Tong Han, Jun Guo, Hao Lu, Zhenwei Yao, Yue Wu, Su Lui, Jane Marie Smith

0Citations signalées — pas une note de qualité

49Institutions déclarées

1Pays d’affiliation déclarés

Résumé fourni par la source

Background As an extension of diffusion tensor imaging (DTI), diffusion kurtosis imaging (DKI) quantifies non-Gaussian water diffusion and has been applied to explore brain disorders. However, the genetic architecture of brain DKI phenotypes remains unknown. Methods Here, we estimated heritability and conducted genome-wide association studies (GWASs) for 804 DKI phenotypes across 188 brain structures in 4183 participants. To determine whether DKI-GWASs provides genetic insights beyond DTI-GWASs, we compared results from 804 DKI-GWASs and 752 DTI-GWASs in the same cohort. To clarify the biological significance of DKI phenotypes, we examined associations between DKI phenotypes and brain health-related outcomes within the CHIMGEN, and explored associations between polygenic risk scores (PRSs) of DKI phenotypes and mental disorders in the UK Biobank. Findings Of 804 DKI phenotypes, 275 showed significant heritability ( P < 0.05; h 2 range: 0.143–0.602). We detected 280 significant associations ( P < 5 × 10 −8 ), with 38 surviving Bonferroni correction ( P < 1.54 × 10 −10 ). These associations were unevenly distributed across chromosomes, DKI phenotype subgroups, and brain structures. Among 229 independent variant–structure associations for DKI, 175 (76.4%) were DKI-specific. We observed 930 associations between DKI phenotypes and brain health-related outcomes ( P < 0.05; ten Bonferroni-significant with P < 1.02 × 10 −5 ), and 200 between PRSs and mental disorders ( P < 0.05; one Bonferroni-significant with P < 9.61 × 10 −5 ). Interpretation This study delineates the genetic architecture of brain DKI phenotypes, identifies complementary genetic insights into brain microstructure, and provides biologically relevant endophenotypes for investigating neural mechanisms underlying brain disorders. Funding National Natural Science Foundation of China, National Key Research and Development Program of China, Tianjin Key Medical Discipline Construction Project, and Tianjin Natural Science Foundation.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.

Contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref: Genome-wide association studies of brain diffusion kurtosis imaging phenotypes
Date Crossref: 01/05/2026
Éditeur: Elsevier BV
Type: journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude et ne compte pas comme une seconde source scientifique indépendante.

Institutions déclarées

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

Sujets associés

Advanced Neuroimaging Techniques and ApplicationsMRI in cancer diagnosisBarrier Structure and Function Studies

Lire en accès ouvert Consulter la publication primaire DOI