rs56405341 Variant Associates with Expression of C4orf33 and C4orf33 Was Downregulated in Alzheimer’s Disease and Progressive Supranuclear Palsy

Article type: Short Communication

Authors: Zhang, Yan^{a; 1} | Xue, Yanli^{b; 1} | Wang, Longcai^c | Han, Zhifa^d | Wang, Tao^e | Zhang, Haihua^f | Liu, Guiyou^{f; e; g; h; *} | Xiao, Xingjun^{i; *}

Affiliations: [a] Department of Pathology, The Affiliated Hospital of Weifang Medical University, Weifang, China | [b] School of Biomedical Engineering, Capital Medical University, Beijing, China | [c] Department of Anesthesiology, The Affiliated Hospital of Weifang Medical University, Weifang, China | [d] State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing, China | [e] Chinese Institute for Brain Research, Beijing, China | [f] 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 | [g] Key Laboratory of Cerebral Microcirculation in Universities of Shandong; Department of Neurology, Second Affiliated Hospital; Shandong First Medical University & Shandong Academy of Medical Sciences, Taian, Shandong, China | [h] Beijing Key Laboratory of Hypoxia Translational Medicine, National Engineering Laboratory of Internet Medical Diagnosis and Treatment Technology, Xuanwu Hospital, Capital Medical University, Beijing, China | [i] Department of Neurology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China

Correspondence: [*] Correspondence to: Guiyou Liu, Beijing Institute for Brain Disorders, Capital Medical University, Room 713, Morphology Building, No.10, Xitoutiao, You’an Men Wai, Fengtai District, Beijing 100069, China. E-mail: [email protected] and Xingjun Xiao, Department of Neurology, The Second Affiliated Hospital of Harbin Medical University, 246 Xuefu Road, Nangang Distirct, Harbin, 150086, China. E-mail: [email protected].

Note: [1] These authors contributed equally to this work.

Abstract: 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.

Keywords: Alzheimer’s disease, gene expression, primary age-related tauopathy, progressive supranuclear palsy, rs56405341, eQTLs analysis

DOI: 10.3233/JAD-230327

Journal: Journal of Alzheimer's Disease, vol. 96, no. 1, pp. 57-64, 2023