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Association of cystathionine beta-synthase polymorphisms and aneurysmal subarachnoid hemorrhage

Philipp Hendrix1, Paul M Foreman2, Mark R Harrigan2

  • 11Department of Neurosurgery, Saarland University Medical Center and Saarland University Faculty of Medicine, Homburg/Saar, Germany.

Journal of Neurosurgery
|August 5, 2017
PubMed

Insights

Genetic variations in Cystathionine β-synthase (CBS) impact aneurysmal subarachnoid hemorrhage (aSAH) risk. Specific CBS polymorphisms are linked to aSAH development and poorer patient outcomes, independent of vasospasm.

Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Cystathionine β-synthase (CBS) plays a role in homocysteine and hydrogen sulfide (H₂S) metabolism.
  • Both homocysteine and H₂S are implicated in the pathology of cerebrovascular diseases.
  • The influence of CBS gene variations on aneurysmal subarachnoid hemorrhage (aSAH) and its consequences remains unclear.

Purpose of the Study:

  • To investigate the association between common CBS polymorphisms and the risk of aSAH.
  • To determine if CBS gene variations correlate with clinical outcomes and sequelae in aSAH patients.

Main Methods:

  • Genetic analysis of CBS polymorphisms using 5'exonuclease genotyping assays.
  • Evaluation of blood samples from 149 aSAH patients and 50 controls enrolled in the CARAS study.
  • Multivariate logistic regression analysis to assess associations between polymorphisms and aSAH risk/outcomes.

Main Results:

  • The 844ins68 CBS insertion polymorphism's insertion allele was significantly associated with a higher risk of aSAH.
  • The GG genotype of the CBS G/A single nucleotide polymorphism (rs234706) correlated with unfavorable functional outcomes at discharge and follow-up.
  • No significant association was found between rs234706 genotype and clinical vasospasm or delayed cerebral ischemia (DCI).

Conclusions:

  • The 844ins68 CBS insertion allele is an independent risk factor for developing aSAH.
  • The rs234706 GG genotype is linked to poor functional recovery after aSAH, irrespective of vasospasm or DCI.
  • Enhanced CBS activity might offer neuroprotection via H₂S modulation, independent of vasospasm pathways.

Keywords:
ADC = apparent diffusion coefficientCARAS = Cerebral Aneurysm Renin Angiotensin SystemCBS = cystathionine β-synthaseDCI = delayed cerebral ischemiaSNP = single nucleotide polymorphismaSAH = aneurysmal subarachnoid hemorrhageaneurysmcystathionine beta-synthasemRS = modified Rankin Scaleoutcomepolymorphismsubarachnoid hemorrhagevascular disorders

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