PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease

被引：73

作者：

Jia, Longfei ^{[1
]}

Fu, Yue ^{[1
]}

Shen, Luxi ^{[1
]}

Zhang, Heng ^{[1
]}

Zhu, Min ^{[1
]}

Qiu, Qiongqiong ^{[1
]}

Wang, Qi ^{[1
]}

Yan, Xin ^{[1
]}

Kong, Chaojun ^{[1
]}

Hao, Jing ^{[1
]}

Wei, Cuibai ^{[1
]}

Tang, Yi ^{[1
]}

Qin, Wei ^{[1
]}

Li, Ying ^{[1
]}

Wang, Fen ^{[1
]}

Guo, Dongmei ^{[1
]}

Zhou, Aihong ^{[1
]}

Zuo, Xiumei ^{[1
]}

Yu, Yueyi ^{[1
]}

Li, Dan ^{[1
]}

Zhao, Lina ^{[1
]}

Jin, Hongmei ^{[1
]}

Jia, Jianping ^{[1
,2
,3
,4
,5
,6
]}

机构：

[1] Capital Med Univ, Xuanwu Hosp, Dept Neurol, Innovat Ctr Neurol Disorders, Beijing, Peoples R China

[2] Beijing Key Lab Geriatr Cognit Disorders, Beijing, Peoples R China

[3] Capital Med Univ, Clin Ctr Neurodegenerat Dis & Memory Impairment, Beijing, Peoples R China

[4] Beijing Inst Brain Disorders, Ctr Alzheimers Dis, Beijing, Peoples R China

[5] Minist Educ, Key Lab Neurodegenerat Dis, Beijing, Peoples R China

[6] Natl Clin Res Ctr Geriatr Disorders, Beijing, Peoples R China

来源：

ALZHEIMERS & DEMENTIA | 2020年 / 16卷 / 01期

基金：

中国国家自然科学基金;

关键词：

Alzheimer's disease; APOE epsilon 4; familial Alzheimer's disease; mild cognitive impairment; PSENs/APP mutations; MILD COGNITIVE IMPAIRMENT; APOLIPOPROTEIN-E; RISK-FACTORS; ONSET; PRESENILIN-1; GENE; FREQUENCY; DEMENTIA; ALLELE; ASSOCIATION;

D O I：

10.1002/alz.12005

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Introduction: The PSENs/APP mutation distribution in Chinese patients with familial Alzheimer's disease (FAD) remains unclear. We aimed to analyze the genetic features of Chinese FAD pedigrees with and without PSENs/APP mutations. Methods: In total, 1330 patients with Alzheimer's disease (AD) or mild cognitive impairment in 404 pedigrees were enrolled from the Chinese Familial Alzheimer's Disease Network. PSENs/APP mutations and APOE frequencies were determined. Results: In total, 13.12% of pedigrees carried PSENs/APP missense mutations, 3.71% carried PSENs/APP synonymous/untranslated region variants, and 83.17% did not carry PSENs/APP mutations. Eleven missense mutations were first identified. In patients without PSENs/APP mutations. 44.31% carried one APOE epsilon 4 allele, and 14.85% two APOE epsilon 4 alleles. Discussion: The new PSENs/APP mutations indicate heterogeneity in AD pathogenesis between Chinese and other ethnic groups. The low mutation rate suggests the involvement of other genes/factors in Chinese FAD. APOE epsilon 4 might be a major gene for some FAD without PSENs/APP mutations.

引用

页码：178 / 191

页数：14

共 49 条

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