title: TREM2 is associated with the risk of Alzheimer's disease in Spanish population.
abstract: Two recent studies have reported the association of rs75932628-T in the TREM2 gene with the risk for Alzheimer's disease (AD). Rs75932628-T is a rare nonsynonymous variant (p.R47H) that confers a high risk of AD with an effect size similar to that of the APOE ɛ4 allele. However, this association has not been replicated in any independent studies to date. The allelic frequency of rs75932628 varies according to the population from 0.02% to 0.63% among healthy controls. In an attempt to replicate the association between rs75932628-T and AD risk, we genotyped rs75932628 in a cohort of 504 AD subjects and 550 healthy controls from a Spanish population. Rs75932628-T showed a minor allele frequency of 0.3% among this cohort. Interestingly, in our study, rs75932628-T was found exclusively in 1.4% of AD cases (7/504), including 4 early-onset AD cases, and in none of the controls (n = 0/550). Here, we report the first positive replication study in a Spanish population and confirm that TREM2 rs75932628-T is associated with the risk for AD.
authors: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.
authors: Bruno A
authors: BA
authors: Benitez
authors: Breanna
authors: B
authors: Cooper
authors: Pau
authors: P
authors: Pastor
authors: Sheng-Chih
authors: SC
authors: Jin
authors: Elena
authors: E
authors: Lorenzo
authors: Sebastian
authors: S
authors: Cervantes
authors: Carlos
authors: C
authors: Cruchaga
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D011971:Receptors, Immunologic / Q000235:genetics*; D013030:Spain / Q000208:ethnology; D044465:White People / Q000208:ethnology / Q000235:genetics*
chemical_list: D008562:Membrane Glycoproteins; D011971:Receptors, Immunologic; C498715:TREM2 protein, human
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