{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:27:04Z","timestamp":1780352824836,"version":"3.54.1"},"reference-count":0,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Princ Pract"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Objective:&lt;\/i&gt;&lt;\/b&gt; Rare variants in the &lt;i&gt;TREM2&lt;\/i&gt; gene have been reported to significantly increase the risk of Alzheimer\u2019s disease in Caucasian populations. Hitherto, this association was not studied in North African populations. In this work, we aimed to study the association between &lt;i&gt;TREM2&lt;\/i&gt; exon 2 variants and the risk of late-onset Alzheimer\u2019s disease (LOAD) in a Tunisian population. &lt;b&gt;&lt;i&gt;Subjects and Methods:&lt;\/i&gt;&lt;\/b&gt; We sequenced exon 2 of &lt;i&gt;TREM2&lt;\/i&gt; 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. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; 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\u2019s disease. Moreover, the rare &lt;i&gt;TREM2&lt;\/i&gt; variant (p.Arg47His), which was considered to be a risk factor for Alzheimer\u2019s disease in European descent populations, was not detected in our cohort. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; These findings do not support a major role for &lt;i&gt;TREM2&lt;\/i&gt; in the pathogenesis of LOAD in the Tunisian population.<\/jats:p>","DOI":"10.1159\/000489779","type":"journal-article","created":{"date-parts":[[2018,5,3]],"date-time":"2018-05-03T21:02:24Z","timestamp":1525381344000},"page":"317-322","source":"Crossref","is-referenced-by-count":8,"title":["Genetic Analysis of &lt;b&gt;&lt;i&gt;TREM2&lt;\/i&gt;&lt;\/b&gt; Variants in Tunisian Patients with Alzheimer's Disease"],"prefix":"10.1159","volume":"27","author":[{"given":"Zied","family":"Landoulsi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mouna","family":"Ben\u00a0Djebara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imen","family":"Kacem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youssef","family":"Sidhom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rym","family":"Kefi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Abdelhak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amina","family":"Gargouri-Berrechid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9615-3797","authenticated-orcid":false,"given":"Riadh","family":"Gouider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2018,5,3]]},"container-title":["Medical Principles and Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/489779","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/489779","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:33:09Z","timestamp":1745425989000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000489779"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2018,9,3]]},"published-print":{"date-parts":[[2018,9,7]]}},"URL":"https:\/\/doi.org\/10.1159\/000489779","archive":["Portico"],"relation":{},"ISSN":["1011-7571","1423-0151"],"issn-type":[{"value":"1011-7571","type":"print"},{"value":"1423-0151","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}