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Presymptomatic Diagnosis of Celiac Disease in Predisposed Children: The Role of Gene Expression Profile

Journal of Pediatric Gastroenterology and Nutrition Aug 29, 2017

Galatola M et al. – This study evaluated the expression of a set of 9 celiac disease (CD) candidate genes in peripheral blood mononuclear cells taken from 22 leukocyte antigen predisposed infants who were at risk of CD (from birth to 6 years of age) before any symptom or production of antibodies. The study concluded that the expression of these small set of candidate genes in peripheral blood mononuclear cells can predict CD at least 9 months before the appearance of any clinical and serological signs of the disease.

Methods

  • Of the 22 children, 9 developed CD (patients) and 13 did not (controls).
  • The gene expression was evaluated in both the groups at 3 different time points 4 to 19 months before diagnosis, at the time of CD diagnosis, and after at least 1 year of a gluten–free diet.

Results

  • The evaluation of gene expression at least 9 months before CD diagnosis showed that 3 genes namely KIAA, TAGAP (T–cell Activation GTPase Activating Protein), and SH2B3 (SH2B Adaptor Protein 3) were overexpressed in the patients compared with the controls.
  • Moreover, stepwise discriminant analysis revealed that 4 genes, namely RGS1 (regulator of G–protein signaling 1), TAGAP, TNFSF14 (tumor necrosis factor [ligand] superfamily member 14), and SH2B3 differentiated the patients from controls before serum antibodies production and clinical symptoms.
  • The multivariate analysis also properly differentiated the CD from the non–CD children in 95.5% of patients.

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