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Association of Thrombomodulin Gene C1418T Polymorphism with Susceptibility to Kawasaki Disease in Chinese Children

Yapeng Lu1, Rui Liu1, Luting Zha1

  • 1Department of Pediatrics, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, China.

Disease Markers
|July 17, 2018
PubMed

Insights

The Thrombomodulin C1418T polymorphism may increase the risk of Kawasaki disease (KD) and coronary artery lesions in children. This genetic factor also appears linked to resistance to intravenous immunoglobulin treatment.

Area of Science:

  • Genetics
  • Pediatrics
  • Cardiology

Background:

  • Kawasaki disease (KD) is an acute vasculitis affecting children, potentially causing coronary artery lesions (CALs).
  • Thrombomodulin (TM) is vital for the protein C anticoagulant pathway.
  • The TM C1418T polymorphism (rs1042579) is linked to vascular disease risk.

Purpose of the Study:

  • To investigate the association between the TM C1418T polymorphism and Kawasaki disease.
  • To determine if this polymorphism correlates with CAL formation in KD patients.
  • To explore the relationship between the TM C1418T polymorphism and resistance to intravenous immunoglobulin (IVIG).

Main Methods:

  • Genotyping analysis of the TM C1418T polymorphism.
  • Comparison between 122 children with KD and 126 healthy controls.
  • Statistical analysis to assess correlations.

Main Results:

  • The TM C1418T polymorphism was found to be correlated with Kawasaki disease susceptibility.
  • A significant association was observed between the polymorphism and the development of CALs.
  • The study revealed a correlation between the TM C1418T polymorphism and IVIG resistance in KD patients.

Conclusions:

  • The TM C1418T polymorphism is associated with increased susceptibility to Kawasaki disease.
  • This genetic variant may predict the risk of coronary artery lesions in children with KD.
  • The TM C1418T polymorphism is linked to treatment resistance in Kawasaki disease, specifically to IVIG.

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