Association of variants in PINX1 and TREM2 with late-onset Alzheimer disease

JAMA May 12, 2019

Tosto G, et al. - Researchers identified the genetic loci for late-onset Alzheimer disease (LOAD) across different ethnic groups through this transethnic meta-analysis combining whole-exome and whole-genome sequencing data from 15,030 candidates in three case-control studies. In all, novel variants were identified in the new PINX1 locus and late-onset Alzheimer's disease-associated TREM2 gene. This transethnic gene-based approach identified PINX1, a telomere integrity gene, as well as TREM2, a gene with an immune receptor product found in microglia linked to LOAD. In aging and neurodegeneration, both genes have well-established roles.

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