Neurobiology of aging
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Neurobiology of aging · Jun 2013
TREM2 is associated with the risk of Alzheimer's disease in Spanish population.
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. ⋯ 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.
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Neurobiology of aging · Jun 2013
Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease primarily involving the corticospinal tract, brainstem, and anterior cells of the spinal cord. Mutations in the profilin 1 gene (PFN1) were recently described in ALS families. ⋯ No nonsynonymous coding variants were identified. Our findings suggest that mutations in the PFN1 gene are not a common cause of ALS in the Chinese population.