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Protein Z G79A polymorphism in Turkish pediatriccerebral infarct patients

Ayşenur Öztürk, Yonca Eğin, Gülhis Deda

  • 1Ankara University Medical School, Department of Pediatric Molecular Genetic, 06610 Cebeci Ankara, Turkey, Phone: +90 312 362 30 30/6348

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology
|June 7, 2016
PubMed

Insights

The G79A polymorphism in Protein Z (PZ) may be a genetic risk factor for pediatric stroke. Specifically, the homozygous AA genotype was associated with an increased risk of cerebral infarct in children.

Area of Science:

  • Genetics
  • Pediatric Neurology
  • Hematology

Background:

  • Protein Z (PZ) functions as an anticoagulant, modulating coagulation.
  • Genetic variations in coagulation factors are implicated in thrombotic events.
  • Pediatric stroke is a significant clinical concern with complex etiologies.

Purpose of the Study:

  • To investigate the association between the Protein Z G79A polymorphism and pediatric cerebral ischemia in a Turkish population.
  • To evaluate plasma Protein Z levels in relation to the G79A polymorphism and stroke risk.

Main Methods:

  • Genotyping for Protein Z G79A, Factor V Leiden (FVL), and Prothrombin (PT) mutations in 91 pediatric stroke patients and 70 controls.
  • Analysis of plasma Protein Z levels in a subset of patients and controls.
  • Statistical analysis including odds ratio (OR) calculation.

Main Results:

  • The homozygous PZ G79A (AA) genotype was more prevalent in pediatric stroke patients (5.5%) than in controls (1.4%), suggesting a potential risk (OR=3.94).
  • This association remained significant even after excluding carriers of FVL and PT mutations (OR=3.88).
  • Plasma Protein Z levels did not differ between stroke patients and controls, but were decreased in patients with the AA genotype.

Conclusions:

  • The Protein Z G79A polymorphism, particularly the AA genotype, may represent a genetic risk factor for cerebral infarct in pediatric patients.
  • Further research is warranted to elucidate the precise role of Protein Z in pediatric stroke pathogenesis.

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