The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort

被引：17

作者：

Zekanowski, C

Peplonska, B

Styczynska, M

Religa, D

Pfeffer, A

Czyzewski, K

Gabryelewicz, T

Szybinska, A

Kijanowksa-Haladyna, B

Kotapka-Minc, S

Luczywek, E

Barczak, A

Wasiak, B

Chodakowska-Zebrowska, M

Przekop, I

Kuznicki, J

Barcikowksa, M

机构：

[1] Int Inst Mol & Cell Biol, Lab Neurodegenerat, PL-02109 Warsaw, Poland

[2] Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, Warsaw, Poland

[3] Karolinska Inst, Sect Expt Geriatr, Dept Neurotec, Stockholm, Sweden

[4] MSWiA Hosp, Dept Neurol, Warsaw, Poland

[5] Inst Psychiat & Neurol, Psychogeriatr Dept, Warsaw, Poland

[6] Polish Acad Sci, Med Res Ctr, Dept Neurosurg, Warsaw, Poland

[7] M Nencki Inst Expt Biol, PL-02093 Warsaw, Poland

来源：

NEUROSCIENCE LETTERS | 2004年 / 357卷 / 03期

关键词：

E318G mutation; polymorphism; presenilin; 1; apolipoprotein E; Alzheimer's disease; Parkinson's disease; centenarians;

D O I：

10.1016/j.neulet.2003.12.052

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Mutations in the presenilin 1 (PSEN1) gene are known to cause nearly 50% of early-onset, familial Alzheimer's disease (AD) cases. To determine whether E318G mutation is related causally to AD in the Polish population E318G mutation frequency was assessed using PCR-RFLP method in a total of 659 subjects: 256 AD patients, 210 healthy, age-matched control subjects, 100 Parkinson's disease patients and 93 centenarians. When the mutation frequencies were compared to healthy controls, no significant differences between the groups were found. It could be concluded that E318G mutation is not related causally to AD in the Polish population, either as a risk factor or a disease causing mutation. (C) 2003 Elsevier Ireland Ltd. All rights reserved.

引用

页码：167 / 170

页数：4

共 21 条

[1] Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism [J].