机构：[1]Department of Pathology, The Affiliated Hospital of Weifang Medical University, Weifang, China[2]School of Biomedical Engineering, Capital Medical University, Beijing, China[3]Department of Anesthesiology, The Affiliated Hospital of Weifang Medical University, Weifang, China[4]State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing, China[5]Chinese Institute for Brain Research, Beijing, China[6]Beijing Institute of Brain Disorders, Laboratory of Brain Disorders, Ministry of Science and Technology, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China[7]Key Laboratory of Cerebral Microcirculation in Universities of Shandong. Department of Neurology, Sec- ond Affiliated Hospital. Shandong First Medical University & Shandong Academy of Medical Sciences, Taian, Shandong, China[8]Beijing Key Laboratory of Hypoxia Translational Medicine, National Engineering Laboratory of Internet Medical Diagnosis and Treatment Technology, Xuanwu Hospital, Capital Medical University, Beijing, China首都医科大学宣武医院[9]Department of Neurology, The Second Affiliated Hospital of Harbin Medical University, Nangang Distirct, Harbin, China
The first primary age-related tauopathy (PART) genome-wide association study confirmed significant associations of Alzheimer's disease (AD) and progressive supranuclear palsy (PSP) genetic variants with PART, and highlighted a novel genetic variant rs56405341. Here, we perform a comprehensive analysis of rs56405341. We found that rs56405341 was significantly associated with C4orf33 mRNA expression, but not JADE1 mRNA expression in multiple brain tissues. C4orf33 was mainly expressed in cerebellar hemisphere and cerebellum, and JADE1 was mainly expressed in thyroid, and coronary artery. Meanwhile, we found significantly downregulated C4orf33 expression both AD and PSP compared with normal controls, respectively.
基金：
This work was supported by funding from the
N ational N atural Science Foundation of China (Grant
No.82071212, and 81901181), Beijing Natural Sci-
ence Funds for Distinguished Young Scholar (Grant
No. JQ2 1022), the Mathematical Tianyuan Fund of
the National Natural Science Foundation of China
(Grant No. 12026414), and Beijing Ten Thousand
Talents Project (Grant No.2020A15). This work was
also partially supported by funding from the Science
and Technology Beijing One Hundred L eading Talent
Training Project (Z141 107001514006), the Beijing
Municipal Administration of Hospitals' Mission Plan
(SML20150802), the Funds of Academic Promotion
Programme of Shandong First Medical University
& Shandong Academy of Medical Sciences (No.
2019QL016, No.2019PT007).
第一作者机构：[1]Department of Pathology, The Affiliated Hospital of Weifang Medical University, Weifang, China
共同第一作者：
通讯作者：
通讯机构：[5]Chinese Institute for Brain Research, Beijing, China[6]Beijing Institute of Brain Disorders, Laboratory of Brain Disorders, Ministry of Science and Technology, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China[7]Key Laboratory of Cerebral Microcirculation in Universities of Shandong. Department of Neurology, Sec- ond Affiliated Hospital. Shandong First Medical University & Shandong Academy of Medical Sciences, Taian, Shandong, China[8]Beijing Key Laboratory of Hypoxia Translational Medicine, National Engineering Laboratory of Internet Medical Diagnosis and Treatment Technology, Xuanwu Hospital, Capital Medical University, Beijing, China[9]Department of Neurology, The Second Affiliated Hospital of Harbin Medical University, Nangang Distirct, Harbin, China[*1]Beijing Institute for Brain Disorders, Capital Medical University, Room 713, Morphology Building, No.10, Xitoutiao, You’an Men Wai, Fengtai District, Beijing 100069, China[*2]Department of Neurology, The Second Affiliated Hospital of Harbin Medical University, 246 Xuefu Road, Nangang Distirct, Harbin, 150086, China
推荐引用方式(GB/T 7714)：
Zhang Yan,Xue Yanli,Wang Longcai,et al.rs56405341 Variant Associates with Expression of C4orf33 and C4orf33 Was Downregulated in Alzheimer's Disease and Progressive Supranuclear Palsy[J].JOURNAL OF ALZHEIMERS DISEASE.2023,96(1):57-64.doi:10.3233/JAD-230327.
APA：
Zhang Yan,Xue Yanli,Wang Longcai,Han Zhifa,Wang Tao...&Xiao Xingjun.(2023).rs56405341 Variant Associates with Expression of C4orf33 and C4orf33 Was Downregulated in Alzheimer's Disease and Progressive Supranuclear Palsy.JOURNAL OF ALZHEIMERS DISEASE,96,(1)
MLA：
Zhang Yan,et al."rs56405341 Variant Associates with Expression of C4orf33 and C4orf33 Was Downregulated in Alzheimer's Disease and Progressive Supranuclear Palsy".JOURNAL OF ALZHEIMERS DISEASE 96..1(2023):57-64
