We evaluated the association of several single-nucleotide polymorphisms in the triggering receptor expressed on myeloid cells 2 (TREM2) gene in a Colombian sample of late-onset Alzheimer disease (LOAD).
The p.Q33* (rs104894002), p.R47H (rs75932628), p.R62H (rs143332484), and p.D87N (rs142232675) variants of TREM2 gene were directly genotyped using KASPar technology in 358 cases and 329 healthy controls. Sanger sequencing was used to validate >10% of KASPar’s results. The Fisher exact test was used to compare the distribution of allelic and genotype frequency between cases and controls, and the Bonferroni correction was set at P<0.05.
The minor allele frequency of rs75932628-T was 0.009 in cases and was not found in any healthy controls which suggests a significant association between rs75932628-T and LOAD risk in our sample (P=0.010). The rs143332484-T variant did not exhibit a significant association (P=0.160), whereas rs104894002 and rs142232675 were not found.
Our findings suggest that the rs75932628-T variant of TREM2 is an important risk factor for LOAD in the Colombian population.
*Neurosciences Research Group, Genetics Institute
Departments of †Pathology
∥Pedriatics, School of Medicine, National University of Colombia, Bogotá, Colombia
C.E.A.-B. and J.O.-R. are co-first authors.
Supported by a grant from COLCIENCIAS (110171250010) and a postdoctoral fellowship from School of Medicine, National University of Colombia to C.E Arboleda-Bustos (33901).
The authors declare no conflicts of interest.
Reprints: Humberto Arboleda, MD, Neurosciences Research Group, Genetics Institute, National University of Colombia, Calle 53 con Carrera 32 Edificio 426, Bogotá 11001, Colombia (e-mail: firstname.lastname@example.org).
Received February 9, 2018
Accepted August 14, 2018