Amyloid Precursor Protein Gene (APP) Variation in Late-Onset Alzheimer's Disease

被引：3

作者：

Miar, Ana ^{[1
]}

Alvarez, Victoria ^{[1
]}

Corao, Ana I. ^{[1
]}

Diaz, Marta ^{[1
]}

Alonso, Belen ^{[1
]}

Martinez, Carmen ^{[2
]}

Calatayud, Maria T. ^{[1
]}

Menendez, Manuel ^{[3
]}

Moris, German ^{[1
]}

Coto, Eliecer ^{[1
,4
]}

机构：

[1] Hosp Univ Cent Asturias, Oviedo 33006, Spain

[2] Hosp Cabuenes, Gijon, Spain

[3] Hosp A Buylla, Mieres, Spain

[4] Univ Oviedo, Dept Med, Oviedo, Spain

来源：

JOURNAL OF MOLECULAR NEUROSCIENCE | 2011年 / 45卷 / 01期

关键词：

Alzheimer's disease; Beta-amyloid; Gene polymorphisms; Genetic association; APOLIPOPROTEIN-E; RISK; POLYMORPHISMS; ASSOCIATION; PROMOTER; ALLELE; BIOGENESIS; EXPRESSION; MUTATIONS; MICRORNAS;

D O I：

10.1007/s12031-011-9510-x

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Mutations in the beta-amyloid precursor protein gene (APP) have been found in familial early-onset Alzheimer's disease (AD). DNA variants at several genes have been linked to the risk of developing the most common late-onset form of AD (LOAD). A few studies analyzed the contribution of APP variants to LOAD, with negative or conflicting results. We determined the variation in the 18 APP exons and flanking intronic sequences in a total of 350 LOAD patients from Spain. A total of 13 nucleotide changes were found and 6 were new and not found among 340 healthy controls, including the only missense change (D243N). The in silico analysis suggested that none of them would have an effect on pre-mRNA splicing or protein folding (D243N). Patients and controls were also genotyped for three APP promoter polymorphisms, and none of them was significantly associated with LOAD. We concluded that APP variants would not contribute to the risk of developing LOAD in our population.

引用

页码：5 / 9

页数：5

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