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Association study between multiple system atrophy and TREM2 p.R47H

Kotaro Ogaki1, Michael G Heckman1, Shunsuke Koga1

  • 1Department of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.

Neurology. Genetics
|August 16, 2018
PubMed
Abstract

Insights

The TREM2 p.R47H variant, a known Alzheimer's risk factor, may also increase the risk for multiple system atrophy (MSA). This suggests a potential link between neuroinflammation and MSA development.

Area of Science:

  • Neurogenetics
  • Neurodegenerative Diseases
  • Immunology

Background:

  • The Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) p.R47H variant is a known risk factor for Alzheimer's disease.
  • Its association with Multiple System Atrophy (MSA) risk has not been extensively studied.
  • Understanding genetic risk factors for MSA is crucial for developing targeted therapies.

Purpose of the Study:

  • To investigate the association between the TREM2 p.R47H variant and the risk of developing Multiple System Atrophy (MSA).
  • To explore the potential role of TREM2 in the pathogenesis of MSA.

Main Methods:

  • Genotyping of the TREM2 p.R47H variant in 168 pathologically confirmed MSA patients, 89 clinically diagnosed MSA patients, and 1,695 controls.
  • Association analysis was performed, with positive findings confirmed by Sanger sequencing.
  • Primary comparison utilized pathologically confirmed MSA cases and controls for definitive diagnosis.

Main Results:

  • The TREM2 p.R47H variant was found in 1.79% of pathologically confirmed MSA patients and 0.41% of controls.
  • Carriage of the TREM2 p.R47H variant was significantly associated with an increased risk of MSA (OR: 4.39, p=0.033).
  • This association remained significant when including clinically diagnosed MSA patients (OR: 3.81, p=0.034).

Conclusions:

  • Preliminary findings suggest the TREM2 p.R47H substitution may be a risk factor for MSA.
  • This implies a potential role for neuroinflammatory processes, particularly microglial activation, in MSA.
  • Further validation with larger sample sizes and meta-analyses is recommended to confirm these findings.

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