title: Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population.
abstract: 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.
authors.affiliation: Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Pawińskiego 5, 02-106 Warsaw, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Pepłońska
authors.forename: Cezary
authors.initials: C
authors.lastname: Zekanowski
authors.forename: Dorota
authors.initials: D
authors.lastname: Religa
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Czyzewski
authors.forename: Maria
authors.initials: M
authors.lastname: Styczyńska
authors.forename: Anna
authors.initials: A
authors.lastname: Pfeffer
authors.forename: Tomasz
authors.initials: T
authors.lastname: Gabryelewicz
authors.forename: Marek
authors.initials: M
authors.lastname: Gołebiowski
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Luczywek
authors.forename: Boguslaw
authors.initials: B
authors.lastname: Wasiak
authors.forename: Anna
authors.initials: A
authors.lastname: Barczak
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Chodakowska
authors.forename: Maria
authors.initials: M
authors.lastname: Barcikowska
authors.forename: Jacek
authors.initials: J
authors.lastname: Kuźnicki
mesh_terms: 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*
chemical_list: C458340:STH protein, human; D016875:tau Proteins