Novel genetic risk variants for pediatric celiac disease

Angeliki Balasopoulou, Biljana Stanković, Angeliki Panagiotara, Gordana Nikčevic, Brock A. Peters, Anne John, Effrosyni Mendrinou, Apostolos Stratopoulos, Aigli Ioanna Legaki, Vasiliki Stathakopoulou, Aristoniki Tsolia, Nikolaos Govaris, Sofia Govari, Zoi Zagoriti, Konstantinos Poulas, Maria Kanariou, Nikki Constantinidou, Maro Krini, Kleopatra Spanou, Nedeljko RadlovicBassam R. Ali, Joseph Borg, Radoje Drmanac, George Chrousos, Sonja Pavlovic, Eleftheria Roma, Branka Zukic, George P. Patrinos, Theodora Katsila

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)


Background: Celiac disease is a complex chronic immune-mediated disorder of the small intestine. Today, the pathobiology of the disease is unclear, perplexing differential diagnosis, patient stratification, and decision-making in the clinic. Methods: Herein, we adopted a next-generation sequencing approach in a celiac disease trio of Greek descent to identify all genomic variants with the potential of celiac disease predisposition. Results: Analysis revealed six genomic variants of prime interest: SLC9A4 c.1919G>A, KIAA1109 c.2933T>C and c.4268-4269delCCinsTA, HoxB6 c.668C>A, HoxD12 c.418G>A, and NCK2 c.745-746delAAinsG, from which NCK2 c.745-746delAAinsG is novel. Data validation in pediatric celiac disease patients of Greek (n = 109) and Serbian (n = 73) descent and their healthy counterparts (n = 111 and n = 32, respectively) indicated that HoxD12 c.418G>A is more prevalent in celiac disease patients in the Serbian population (P < 0.01), while NCK2 c.745-746delAAinsG is less prevalent in celiac disease patients rather than healthy individuals of Greek descent (P = 0.03). SLC9A4 c.1919G>A and KIAA1109 c.2933T>C and c.4268-4269delCCinsTA were more abundant in patients; nevertheless, they failed to show statistical significance. Conclusions: The next-generation sequencing-based family genomics approach described herein may serve as a paradigm towards the identification of novel functional variants with the aim of understanding complex disease pathobiology.

Original languageEnglish
Article number34
JournalHuman Genomics
Issue number1
Publication statusPublished - Jan 7 2016


  • Celiac disease
  • Disease predisposition
  • Family genomics
  • Genomic variants
  • Next-generation sequencing

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Drug Discovery


Dive into the research topics of 'Novel genetic risk variants for pediatric celiac disease'. Together they form a unique fingerprint.

Cite this