publication . Article . Other literature type . 2013

TREM2 Variants in Alzheimer's Disease

Michelle Lupton;
  • Published: 10 Jan 2013
Abstract
BACKGROUND: Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. METHODS: We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set). We then performed a meta-analysis on imputed data for the TREM2 variant rs75932628 (predicted to cause a R47H substitution) from three genomewide association studies of Alzheimer's disease and tested for the association of the variant with disease. We genoty...
Subjects
free text keywords: Biology, Common disease-common variant, Genetic association, Exome, Dementia, medicine.disease, medicine, Genetics, Allele, Genome-wide association study, Alzheimer's disease, TREM2, Article
Abstract
BACKGROUND: Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. METHODS: We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set). We then performed a meta-analysis on imputed data for the TREM2 variant rs75932628 (predicted to cause a R47H substitution) from three genomewide association studies of Alzheimer's disease and tested for the association of the variant with disease. We genoty...
Subjects
free text keywords: Biology, Common disease-common variant, Genetic association, Exome, Dementia, medicine.disease, medicine, Genetics, Allele, Genome-wide association study, Alzheimer's disease, TREM2, Article
Powered by OpenAIRE Research Graph
Any information missing or wrong?Report an Issue