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:
23759145 TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.
24535663 TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.
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.
25585992 TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
26026943 Assessment of TREM2 rs75932628 association with amyotrophic lateral sclerosis in a Chinese population.
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.
29322490 The rs75932628 and rs2234253 polymorphisms of the TREM2 gene were associated with susceptibility to frontotemporal lobar degeneration in Caucasian populations.
30109269 Association study between multiple system atrophy and TREM2 p.R47H.
30222607 The p.R47H Variant of TREM2 Gene is Associated With Late-onset Alzheimer Disease in Colombian Population.
30883352 TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis.
31362167 TREM2 R47H (rs75932628) variant is unlikely to contribute to Multiple Sclerosis susceptibility and severity in a large Greek MS cohort.
31513029 Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders.
35260199 A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.