The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort.
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.
Zekanowski
Cezary
C
Laboratory of Neurodegeneration, International Institute of Molecular and Cell Biology, ul. Ksiecia Trojdena 4, PL-02-109 Warszawa, Poland. csarekz@iimcb.gov.pl
Pepłońska
Beata
B
Styczyńska
Maria
M
Religa
Dorota
D
Pfeffer
Anna
A
Czyzewski
Krzysztof
K
Gabryelewicz
Tomasz
T
Szybińska
Aleksandra
A
Kijanowska-Haładyna
Beata
B
Kotapka-Minc
Sławomira
S
Łuczywek
Elzbieta
E
Barczak
Anna
A
Wasiak
Bogusław
B
Chodakowska-Zebrowska
Małgorzata
M
Przekop
Izabela
I
Kuźnicki
Jacek
J
Barcikowska
Maria
M
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D018698:Glutamic Acid / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics; D017354:Point Mutation; D011044:Poland; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D053764:Presenilin-1
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D018698:Glutamic Acid; D005998:Glycine