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A CARD9 polymorphism is associated with decreased likelihood of persistent conjugated hyperbilirubinemia in

Karolina Maria Burghardt1, Vishal Avinashi2, Christina Kosar3

  • 1Group for Improvement of Intestinal Function and Treatment (GIFT), Transplant Centre, Toronto, Ontario, Canada ; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Toronto, Ontario, Canada.

Plos One
|January 28, 2014
PubMed

Insights

Genetic variations in the CARD9 gene may protect against intestinal failure (IF) and reduce the risk of liver disease complications in children. This suggests a role for innate immunity in IF-associated liver disease.

Area of Science:

  • Immunology
  • Genetics
  • Gastroenterology

Background:

  • Genetic associations, particularly NOD2 polymorphisms, are linked to graft failure in intestinal transplantation (IT).
  • The role of other genes in the NOD2 signaling cascade in intestinal failure (IF) remains unclear.

Purpose of the Study:

  • To investigate the association between polymorphisms in the NOD2 signaling pathway (NOD2, CARD9, RAC1, ATG16L1) and the development of IF and its complications.
  • To evaluate the impact of these polymorphisms on outcomes such as sepsis, ICU admissions, hyperbilirubinemia, and the need for IT.

Main Methods:

  • A cross-sectional study involving 59 children with IF and 500 healthy Caucasian controls.
  • Utilized the Taqman platform to determine the prevalence of single nucleotide polymorphisms (SNPs) in NOD2, ATG16L1, RAC1, and CARD9.
  • Assessed the relationship between NOD2 pathway polymorphisms and clinical outcomes.

Main Results:

  • A specific CARD9 single nucleotide polymorphism (SNP) minor allele was associated with protection against developing IF compared to healthy controls.
  • This CARD9 polymorphism was also linked to a reduced likelihood of sustained conjugated hyperbilirubinemia.
  • These findings suggest that IF patients with CARD9 polymorphism have a lower risk of progressive liver disease.

Conclusions:

  • Host innate immunity, specifically involving CARD9, may play a significant role in the pathogenesis of IF-associated liver disease.
  • Targeting or understanding the role of CARD9 in innate immunity could offer new insights into managing IF and its complications.

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