Affiliations: [a] INSERM U1079, Faculté de Médecine, IRIB, Rouen, France | [b] CNR-MAJ, Rouen University Hospital, Lille University Hospital and Paris Salpêtrière University Hospital, Paris, France | [c] CHU and EA1046 Université Lille Nord de France, Lille, France | [d] Research Department, Centre Hospitalier du Rouvray, Sotteville-Les-Rouen Cedex, France
Correspondence:
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Correspondence to: Dominique Campion, Inserm U1079, Faculté de Médecine; CNR-MAJ, Rouen University Hospital, Lille University Hospital and Paris Salpêtrière University Hospital, Paris; Research Department, Centre Hospitalier du Rouvray, Sotteville-Les-Rouen Cedex, 76000 Rouen, France. Tel.: +33 (0)2 35 14 82 80; Fax: +33 2 35 14 82 37; E-mail: dominique.campion@univ-rouen.fr.
Note: [1] Equal contribution to this work.
Abstract: The rs75932628-T variant of the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2) has recently been identified as a rare risk factor for late-onset Alzheimer's disease (AD). In this study we examined the association between TREM2 exon 2 variants and early-onset AD in a sample of Caucasian subjects of French origin including 726 patients with age of onset ≤65 years and 783 controls. Only the rs75932628-T variant (predicted to cause an R47H substitution) conferred a significant risk for early-onset AD (OR, 4.07; 95% CI, 1.3 to 16.9; p = 0.009). These results confirm the association between this variant and AD and underline its involvement in early-onset cases.
Keywords: Early onset Alzheimer's disease, rare variant, risk factor, TREM2
