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

被引：0

作者：

Zhang, Yan ^{[1
]}

Xue, Yanli ^{[2
]}

Wang, Longcai ^{[3
]}

Han, Zhifa ^{[4
]}

Wang, Tao ^{[5
]}

Zhang, Haihua ^{[6
]}

Liu, Guiyou ^{[5
,6
,7
,8
,9
]}

Xiao, Xingjun ^{[10
]}

机构：

[1] Weifang Med Univ, Dept Pathol, Affiliated Hosp, Weifang, Peoples R China

[2] Capital Med Univ, Sch Biomed Engn, Beijing, Peoples R China

[3] Weifang Med Univ, Dept Anesthesiol, Affiliated Hosp, Weifang, Peoples R China

[4] Chinese Acad Med Sci, Inst Basic Med Sci, State Key Lab Med Mol Biol, Beijing, Peoples R China

[5] Chinese Inst Brain Res, Beijing, Peoples R China

[6] Capital Med Univ, Beijing Inst Brain Disorders, Collaborat Innovat Ctr Brain Disorders, Lab Brain Disorders,Minist Sci & Technol, Beijing, Peoples R China

[7] Shandong First Med Univ & Shandong Acad Med Sci, Key Lab Cerebral Microcirculat Univ Shandong, Tai An, Shandong, Peoples R China

[8] Shandong First Med Univ & Shandong Acad Med Sci, Affiliated Hosp 2, Dept Neurol, Tai An, Shandong, Peoples R China

[9] Capital Med Univ, Beijing Key Lab Hypoxia Translat Med, Xuanwu Hosp, Natl Engn Lab Internet Med Diag & Treatment Techn, Beijing, Peoples R China

[10] Harbin Med Univ, Dept Neurol, Affiliated Hosp 2, Harbin, Peoples R China

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2023年 / 96卷 / 01期

基金：

中国国家自然科学基金;

关键词：

Alzheimer's disease; gene expression; primary age-related tauopathy; progressive supranuclear palsy; rs56405341; IDENTIFICATION; TRANSCRIPTOME; RISK;

D O I：

10.3233/JAD-230327

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：57 / 64

页数：8

共 27 条

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