Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population.
The saitohin (STH) gene is located in intron 9 of the tau protein gene. It has been postulated that the R allele of Q7R polymorphism at the Saitohin gene is over-represented in the homozygous state in sporadic Alzheimer's disease (AD). Tau protein was implicated in AD pathophysiology and the tau gene haplotype is probably connected with sporadic late-onset Parkinson's disease (PD). We analyzed the STH polymorphism and tau gene haplotype in 100 clinically diagnosed AD cases, 100 PD cases and 100 age-matched healthy controls. We found that the R allele of the STH gene is associated with the H2 haplotype of tau in all cases. Additionally we observed no correlation between R allele frequency and AD or PD.
Pepłońska
Beata
B
Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Pawińskiego 5, 02-106 Warsaw, Poland.
Zekanowski
Cezary
C
Religa
Dorota
D
Czyzewski
Krzysztof
K
Styczyńska
Maria
M
Pfeffer
Anna
A
Gabryelewicz
Tomasz
T
Gołebiowski
Marek
M
Luczywek
Elzbieta
E
Wasiak
Boguslaw
B
Barczak
Anna
A
Chodakowska
Małgorzata
M
Barcikowska
Maria
M
Kuźnicki
Jacek
J
D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000235:genetics; D011044:Poland; D011110:Polymorphism, Genetic / Q000235:genetics*; D018709:Statistics, Nonparametric; D016875:tau Proteins / Q000235:genetics*
C458340:STH protein, human; D016875:tau Proteins