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Updated: Sep 13, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Genetic Susceptibility in Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease: A Case-Control Study

Ioulia Mavrikou1, Marta Castelli2, Tasoula Touloumenidou1

  • 1Hematology & BMT Unit, General Hospital "George Papanikolaou", 57010 Thessaloniki, Greece.

International Journal of Molecular Sciences
|July 29, 2025
PubMed

Insights

Genetic variants in hematopoietic cell transplantation (HCT) complications like Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease (SOS/VOD) were studied. Distinct genetic differences were found between SOS/VOD and transplant-associated thrombotic microangiopathy (TA-TMA), suggesting different disease pathways.

Area of Science:

  • Genetics
  • Hematology
  • Immunology

Background:

  • Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease (SOS/VOD) is a serious complication following hematopoietic cell transplantation (HCT).
  • Complement activation and endothelial injury are implicated in SOS/VOD pathogenesis.
  • Distinguishing genetic factors between SOS/VOD and transplant-associated thrombotic microangiopathy (TA-TMA) is crucial for understanding disease mechanisms.

Purpose of the Study:

  • To identify distinct pathogenic genetic variants differentiating SOS/VOD from TA-TMA in HCT recipients.
  • To explore the genetic basis of SOS/VOD and TA-TMA using Next-Generation Sequencing (NGS).

Main Methods:

  • Genomic DNA analysis of 30 SOS/VOD patients and 30 TA-TMA controls.
  • Next-Generation Sequencing (NGS) of complement-related genes (e.g., CFH, C3) and ADAMTS13.
  • Variant classification and comparison between patient groups.

Main Results:

  • Twenty pathogenic variants were identified among 426 detected variants.
  • SOS/VOD patients showed variants in ADAMTS13, CFH, C3, and CFB genes.
  • Controls (TA-TMA) had more variants in complement genes (CFH, CFI, C3), with one variant strongly predicting ADAMTS13 activity.

Conclusions:

  • Significant genetic differences exist between SOS/VOD and TA-TMA, indicating distinct pathogenic mechanisms.
  • These findings may enable targeted risk assessment and therapeutic strategies for HCT recipients.
  • Further research into genetic predispositions can improve HCT outcomes.

Keywords:
allogeneic hematopoietic stem cell transplantationcomplementdefibrotidegenetic susceptibilitynext-generation sequencingsinusoidal obstruction syndrome (SOS)veno-occlusive disease (VOD)

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