Genetic Analysis of TREM2 Variants in Tunisian Patients with Alzheimer's Disease
| Autor: | Sonia Abdelhak, Mouna Ben Djebara, Rym Kefi, Riadh Gouider, A. Gargouri-Berrechid, Zied Landoulsi, Youssef Sidhom, Imen Kacem |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Genetics Nonsynonymous substitution business.industry TREM2 Case-control study General Medicine Disease 03 medical and health sciences symbols.namesake 030104 developmental biology 0302 clinical medicine Cohort symbols Medicine Allele Risk factor business 030217 neurology & neurosurgery Fisher's exact test |
| Zdroj: | Medical Principles and Practice. 27:317-322 |
| ISSN: | 1423-0151 1011-7571 |
| DOI: | 10.1159/000489779 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|