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The p.R47H Variant of TREM2 Gene is Associated With Late-onset Alzheimer Disease in Colombian Population

Arboleda-Bustos, Carlos E., PhD*; Ortega-Rojas, Jenny, MSc*; Mahecha, María F., MSc*; Arboleda, Gonzalo, PhD*,†; Vásquez, Rafael, MD*,‡; Pardo, Rodrigo, MD*,§; Arboleda, Humberto, MD, MSc*,∥

Alzheimer Disease & Associated Disorders: October-December 2018 - Volume 32 - Issue 4 - p 305–308
doi: 10.1097/WAD.0000000000000275
Original Articles

Objective: 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).

Methods: 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.

Results: 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.

Conclusions: 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

Psychiatry

§Internal Medicine

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: harboledag@unal.edu.co).

Received February 9, 2018

Accepted August 14, 2018

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