Normal allele: CC
A polymorphism in the TREM2 gene on chromosome 6 resulting in an R47H substitution confers a significantly higher risk of late-onset Alzheimer's disease.
Polymorphism rs75932628 is related to topics like this:
Research and publications:
23380991 TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.
23391427 TREM2 is associated with risk of Alzheimer's disease in the Spanish population.
23759145 TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.
24443964 Review: Genetics of Alzheimer's disease;
24535663 TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.
24663666 Evidence of the trem2 variant is associated with a triple risk of Alzheimer's disease.
24899047 TREM2 coding variants increase the risk of Alzheimer's disease.
25027412 Frontobasal gray matter loss is associated with the TREM2 p.R47H variant.
25108264 Genomics in neurological disorders.
25186855 The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk.
25260849 TREM2 analysis and increased risk of Alzheimer's disease.
25426068 Bioenergetic dysfunction and inflammation in Alzheimer's disease: a possible link.
25585992 TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.
26037549 TREM2 variants and risk of Alzheimer's disease: a meta-analysis.
26058841 More evidence linking a rare TREM2 mutation (R47H) to Alzheimer's disease risk.
26438529 Genetics draws attention to microglial inflammation in Alzheimer's disease.
26680604 Polygenic analysis of late-onset Alzheimer's disease in mainland China.
26704436 Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson's disease.
27274215 Genes associated with Alzheimer's disease: review and current status.
27589997 Rare TREM2 variants associated with Alzheimer's disease show reduced cell surface expression.
27653456 Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.
28430856 A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
28449691 The impact of rare and low-frequency genetic variants in common disease.
28650998 Functional annotation of Alzheimer's disease-associated loci identified by GWAS.
30109269 Association study between multiple system atrophy and TREM2 p.R47H.
30883352 TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis.
31513029 Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders.
31799158 Association of MS4A6A, CD33 and TREM2 gene polymorphisms with late-onset Alzheimer's disease.
32635934 TREM2 ectodomain and its soluble form in Alzheimer's disease.
32651314 Whole exome sequencing analysis of Alzheimer's disease in non-APOE*4 carriers.
33815092 Genetic variation in molecular pathways associated with Alzheimer's disease: a comprehensive review.
34340230 Association between the TREM2 gene and late-onset Alzheimer's disease in the Chinese Han population.
35003116 Targeting TREM2 in Parkinson's disease: where to go?
35260199 A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
35864757 TREM2 coding variants in Slovak patients with Alzheimer's disease.