title: Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer's Disease.
abstract: OBJECTIVE
  To analyze the association between TREM2 exon 2 variants and late-onset (sporadic) Alzheimer's disease (AD) in an elderly Iranian population.
  
  
  METHODS
  Exon 2 of TREM2 in a total of 131 AD patients and 157 controls was genotyped using polymerase chain reaction and Sanger sequencing. Fisher's exact test was used to compare the allele and genotype frequency between the 2 study groups.
  
  
  RESULTS
  One homozygous and 2 heterozygous carriers of rs75932628-T in the AD patients and 1 heterozygous carrier in the control group were identified. One novel damaging variant, G55R, was also detected in the AD patient group. The frequency of rs75932628-T as well as the amount of rare variants were higher in the AD patients than in the controls, but this did not reach a statistically significant association with AD (odds ratio: 4.8; 95% confidence interval: 0.54 to 43.6; p = 0.270).
  
  
  CONCLUSIONS
  The rs75932628-T allele frequency in the elderly Iranian population (0.86%) was high.
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Mehrjoo
authors.forename: Amin
authors.initials: A
authors.lastname: Najmabadi
authors.forename: Seyedeh Sedigheh
authors.initials: SS
authors.lastname: Abedini
authors.forename: Marzieh
authors.initials: M
authors.lastname: Mohseni
authors.forename: Koorosh
authors.initials: K
authors.lastname: Kamali
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Hamid Reza
authors.initials: HR
authors.lastname: Khorram Khorshid
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D011971:Receptors, Immunologic / Q000235:genetics*; D012307:Risk Factors; D012959:Socioeconomic Factors
chemical_list: D008562:Membrane Glycoproteins; D011971:Receptors, Immunologic; C498715:TREM2 protein, human