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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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MAPT haplotype diversity in multiple system atrophy.

Catherine Labbé1, Michael G Heckman2, Oswaldo Lorenzo-Betancor1

  • 1Department of Neuroscience, Mayo Clinic, Jacksonville, FL, 32224, USA.

Parkinsonism & Related Disorders
|July 5, 2016
PubMed
Summary
This summary is machine-generated.

Genetic variations in the MAPT gene are linked to Multiple System Atrophy (MSA) risk. The study found specific MAPT haplotypes, particularly H2, show a protective association with MSA, especially in MSA-C subtypes.

Keywords:
Association studyGeneticsMAPTMultiple system atrophy

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Area of Science:

  • Neurogenetics
  • Neurodegenerative Diseases

Background:

  • Multiple system atrophy (MSA) is a rare, progressive neurodegenerative disorder.
  • While often sporadic, genetic factors like SNCA, COQ2, and LRRK2 are implicated in MSA.
  • The MAPT gene, associated with other neurodegenerative diseases, was previously linked to a protective H2 haplotype in MSA.

Purpose of the Study:

  • To investigate the full MAPT haplotype diversity in Multiple System Atrophy (MSA) patients.
  • To determine the association between MAPT haplotypes and MSA risk and subtypes.

Main Methods:

  • Genotyping of six MAPT tagging single nucleotide polymorphisms (SNPs).
  • Analysis of 127 pathologically confirmed MSA cases, 86 clinically diagnosed MSA patients, and 1312 controls.
  • Evaluation of MAPT haplotype associations with MSA and its subtypes (MSA-C and MSA-P).

Main Results:

  • Four significant association signals for MAPT haplotypes were identified in pathologically confirmed MSA cases.
  • Protective haplotypes H2 and H1E, and risk haplotypes H1x and H1J showed significant associations.
  • The protective H2 haplotype was significantly less frequent in MSA-C (cerebellar subtype) patients compared to controls (P < 0.0001).

Conclusions:

  • MAPT gene variations are associated with the risk of developing Multiple System Atrophy (MSA).
  • The protective effect of the H2 haplotype appears more pronounced in MSA-C compared to MSA-P (parkinsonian subtype).
  • Further large-scale genetic studies and meta-analyses are necessary to fully elucidate the role of MAPT in MSA pathogenesis.