title: Study on the association between SOAT1 polymorphisms, Alzheimer's disease risk and the level of CSF biomarkers.
abstract: BACKGROUND
  In Alzheimer's disease (AD) the beta-amyloid precursor protein is excessively cleaved into Abeta(42), causing the abundant amyloid plaque loads in affected brain areas. Sterol O-acyltransferase 1 (SOAT1) has been found to regulate the production of beta-amyloid precursor protein.
  
  
  METHODS
  We genotyped 4 SOAT1 single nucleotide polymorphism (SNP) sites (rs2247071, rs2862616, rs3753526 and rs1044925) in 410 Finnish AD cases and 455 controls and conducted a single allele and genotypic distribution comparison as well as estimating the haplotype frequencies between cases and controls and the level of biomarkers in genotype and haplotype carriers.
  
  
  RESULTS
  The CC genotype of rs2247071 was overrepresented in the AD cases (OR = 1.38, 95% CI = 1.01-1.89, p = 0.043, Bonferroni corrected p = 0.172 with 4 tests) independent of gender, age and APOE epsilon4 allele carrier status. We did not find any significant differences between Abeta(42), tau or ptau levels in different allele, genotype or haplotype carrier cases.
  
  
  CONCLUSIONS
  Our findings suggest that SOAT1 gene may possibly be only a minor risk factor in AD.
authors.affiliation: Unit of Neurology, Clinical Department, Brain Research Unit, Clinical Research Center, Mediteknia, University of Kuopio, Kuopio, Finland. riikka.lamsa@uku.fi
authors.forename: R
authors.initials: R
authors.lastname: Lamsa
authors.forename: S
authors.initials: S
authors.lastname: Helisalmi
authors.forename: S-K
authors.initials: SK
authors.lastname: Herukka
authors.forename: T
authors.initials: T
authors.lastname: Tapiola
authors.forename: T
authors.initials: T
authors.lastname: Pirttila
authors.forename: S
authors.initials: S
authors.lastname: Vepsalainen
authors.forename: M
authors.initials: M
authors.lastname: Hiltunen
authors.forename: H
authors.initials: H
authors.lastname: Soininen
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics*; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid*; D015415:Biomarkers / Q000134:cerebrospinal fluid; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010446:Peptide Fragments / Q000134:cerebrospinal fluid*; D010766:Phosphorylation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D002785:Sterol O-Acyltransferase / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016229:Amyloid beta-Peptides; D015415:Biomarkers; C054369:MAPT protein, human; D010446:Peptide Fragments; C075222:amyloid beta-protein (1-42); D016875:tau Proteins; D002785:Sterol O-Acyltransferase; C493492:sterol O-acyltransferase 1