title: Association Analysis of Polymorphisms in TOMM40, CR1, PVRL2, SORL1, PICALM, and 14q32.13 Regions in Colombian Alzheimer Disease Patients.
abstract: We evaluated the association of several single-nucleotide polymorphisms in different genes including APOE, TOMM40, CR1, PVRL2, SORL1, PICALM, and GWA_14q32.13 in a Colombian sample of Late-Onset Alzheimer disease (LOAD) patients.
  
  
  
  A case-control study was conducted in 362 individuals (181 LOADs and 181 controls) to determine the association of single-nucleotide polymorphisms in APOE (e2, e3, and e4), TOMM40 (rs2075650), CR1 (rs665640), PVRL2 (rs6859), SORL1 (rs11218304), PICALM (rs3851179), and GWA_14q32.13 (rs11622883) with LOAD in a sample from Colombia.
  
  
  
  We were able to confirm the previously reported association of the APOE4 allele with AD. In addition, we report a new significant association with rs2075650 of TOMM40 for LOAD in our sample. We did not detect any significant interaction between TOMM40 and APOE4 carriers (heterozygous or homozygous) for disease risk development. However, Kaplan-Meier survival analyses suggest that AD patients with TOMM40 allele rs2075650-G have an average age of disease onset of 6 years earlier compared with carriers of the A allele. In addition, the age of disease onset is earlier if APOE4/4 is present.
  
  
  
  Our findings suggest that rs2075650 of TOMM40 could be involved in earlier presentation of LOAD in the Colombian population.
authors.affiliation: *Neurosciences Research Group, Genetics Institute †Departament of Statistics, Universidad Nacional de Colombia, Bogotá Departments of §Internal Medicine ∥Pathology ¶Pediatrics, School of Medicine, Universidad Nacional de Colombia ‡Laboratory of Neuropsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia.
authors.forename: Jenny
authors.initials: J
authors.lastname: Ortega-Rojas
authors.forename: Luis
authors.initials: L
authors.lastname: Morales
authors.forename: Esneyder
authors.initials: E
authors.lastname: Guerrero
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Arboleda-Bustos
authors.forename: Adriana
authors.initials: A
authors.lastname: Mejia
authors.forename: Diego
authors.initials: D
authors.lastname: Forero
authors.forename: Luis
authors.initials: L
authors.lastname: Lopez
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Pardo
authors.forename: Gonzalo
authors.initials: G
authors.lastname: Arboleda
authors.forename: Juan
authors.initials: J
authors.lastname: Yunis
authors.forename: Humberto
authors.initials: H
authors.lastname: Arboleda
mesh_terms: D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics; D016022:Case-Control Studies; D003105:Colombia; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D000075983:Nectins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017463:Receptors, Complement 3b / Q000235:genetics*
chemical_list: D053327:Apolipoprotein E4; C509991:CR1 protein, human; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C000619011:NECTIN2 protein, human; D000075983:Nectins; D017463:Receptors, Complement 3b; C400783:TOMM40 protein, human