RESUMEN
Objective: Rare variants in the TREM2 gene have been reported to significantly increase the risk of Alzheimer's disease in Caucasian populations. Hitherto, this association was not studied in North African populations. In this work, we
aimed to study the association between TREM2 exon 2 variants and the risk of late-onset Alzheimer's disease [LOAD] in a Tunisian population
Subjects and Methods: We sequenced exon 2 of TREM2 in a Tunisian cohort of 172 LOAD patients and 158 control subjects. We used the Fisher exact test to compare the distribution of allelic frequencies between the two groups
Results: We identified 4 previously reported nonsynonymous variants [p.Asp39Glu, p.Arg62His, p.Thr96Lys, and p.Val126Gly] and 1 novel synonymous variant [p.Gln109Gln], none of which was significantly associated with the risk of Alzheimer's disease. Moreover, the rare TREM2 variant [p.Arg47His], which was considered to be a risk factor for Alzheimer's disease in European descent populations, was not detected in our cohort
Conclusion: These findings do not support a major role for TREM2 in the pathogenesis of LOAD in the Tunisian population