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Polymorphisms in PARK2 and MRPL37 are associated with higher risk of recurrent venous thromboembolism in a sex-specific manner

  • Kristina Sundquist
  • Abrar Ahmad
  • Peter J. Svensson
  • Bengt Zöller
  • Jan Sundquist
  • Ashfaque A. Memon
Publishing year: 2018-08
Language: English
Pages: 154-165
Publication/Series: Journal of Thrombosis and Thrombolysis
Volume: 46
Issue: 2
Document type: Journal article
Publisher: Springer

Abstract english

Recent studies indicate that mitochondrial DNA (mtDNA) dysfunction is a biomarker of oxidative stress and can predict the risk of cardiovascular diseases (CVDs). Genetic variants in PARK2 (rs4708928) and MRPL37 (rs10888838) genes have been shown to be associated with altered levels of mtDNA in a sex-specific manner. However, the role of these genetic variants in risk assessment of recurrent venous thromboembolism (VTE) is unknown. We investigated the role of these polymorphisms in VTE recurrence in patients from the Malmö thrombophilia study (MATS, n = 1465), followed for ~ 10 years. Genotyping was performed by TaqMan polymerase chain reaction. Female patients with PARK2 polymorphism had significantly higher risk of VTE recurrence (Hazard ratio [HR] = 2.39, 95% confidence interval [CI] 1.09–5.24) and male patients with MRPL37 polymorphism had a significantly higher risk of VTE recurrence (HR = 1.79, 95% CI 1.01–3.17) on multivariate Cox regression analysis. Combined analysis of these polymorphism with factor V Leiden (FVL) showed that female patients with both, FVL and PARK2 polymorphism had even higher risk of VTE recurrence (HR = 4.49, 95% CI 1.58–12.75) compared to FVL or PARK2 polymorphism alone or both wild-type (reference). Similarly, male patients with both FVL and MRPL37 polymorphism had significantly higher risk of VTE recurrence (HR = 2.97, 95% CI 1.45–6.08) compared to those with FVL or MRPL37 polymorphisms alone or the reference group. Polymorphisms in nuclear genome regulating mtDNA together with FVL may be promising biomarkers for predicting VTE recurrence in a sex specific manner. The abstract should be followed by 3-4 bullet points that highlight the major findings. The final bullet point should address future research.


  • Medical Genetics
  • Factor V Leiden
  • Genetic risk factor
  • Mitochondria
  • Predictive biomarkers
  • Recurrent VTE


  • Family Medicine, Cardiovascular Epidemiology and Lifestyle
  • Family Medicine, Psychiatric Epidemiology and Migration
  • Clinical Coagulation, Malmö
  • ISSN: 0929-5305
E-mail: abrar [dot] ahmad [at] med [dot] lu [dot] se

Assistant researcher

Diabetic Complications


Lund University Diabetes Centre, CRC, SUS Malmö, Jan Waldenströms gata 35, House 91:12. SE-214 28 Malmö. Telephone: +46 40 39 10 00