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Common mitochondrial sequence variants in ischemic stroke

Christopher D Anderson1, Alessandro Biffi, Rosanna Rahman

  • 1Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA.

Annals of Neurology
|September 15, 2010
PubMed
Abstract

Insights

Common mitochondrial genetic variants, when summed, are associated with ischemic stroke risk and white matter hyperintensity (WMHV) volume. No single variant reached significance, indicating a need for larger studies to pinpoint specific genetic influences on cerebrovascular disease.

Area of Science:

  • Genetics
  • Neurology
  • Mitochondrial Biology

Background:

  • Rare mitochondrial mutations are known to cause neurological disorders, including ischemic stroke.
  • White matter hyperintensity (WMHV) is a common finding in stroke patients and is associated with cerebrovascular disease.
  • The role of common mitochondrial genetic variants in sporadic ischemic stroke risk and WMHV is not well understood.

Purpose of the Study:

  • To investigate the association between common mitochondrial genetic variants and the risk of sporadic ischemic stroke.
  • To examine the relationship between a genetic score of mitochondrial variants and WMHV in ischemic stroke patients.

Main Methods:

  • A multicenter mitochondrial genome-wide association study (GWAS) was conducted.
  • 2,284 ischemic stroke cases and 1,728 controls were genotyped for mitochondrial single nucleotide polymorphisms (SNPs).
  • A genetic score was calculated by summing the contributions of all common mitochondrial variants and tested for association with ischemic stroke and WMHV.

Main Results:

  • No individual mitochondrial SNP reached statistical significance for association with ischemic stroke in meta-analysis.
  • A genetic score comprising all common mitochondrial variants showed a significant association with ischemic stroke (OR = 1.13, p < 0.0001).
  • This mitochondrial genetic score was also associated with WMHV in a subset of stroke patients (p = 0.037).

Conclusions:

  • An aggregate genetic score of common mitochondrial variants is associated with ischemic stroke risk.
  • The same mitochondrial genetic score correlates with WMHV in stroke patients, suggesting a role in cerebrovascular disease pathogenesis.
  • Larger studies are necessary to identify specific mitochondrial sequence variants contributing to cerebrovascular diseases.

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