@article{3022508,
    title = "Novel genetic risk variants for pediatric celiac disease",
    author = "Balasopoulou, A. and Stanković, B. and Panagiotara, A. and Nikčevic, G. and Peters, B.A. and John, A. and Mendrinou, E. and Stratopoulos, A. and Legaki, A.I. and Stathakopoulou, V. and Tsolia, A. and Govaris, N. and Govari, S. and Zagoriti, Z. and Poulas, K. and Kanariou, M. and Constantinidou, N. and Krini, M. and Spanou, K. and Radlovic, N. and Ali, B.R. and Borg, J. and Drmanac, R. and Chrousos, G. and Pavlovic, S. and Roma, E. and Zukic, B. and Patrinos, G.P. and Katsila, T.",
    journal = "Human Genome Variation",
    year = "2018",
    volume = "10",
    number = "1",
    publisher = "BioMed Central Ltd.",
    issn = "2054-345X",
    doi = "10.1186/s40246-016-0091-1",
    keywords = "genomic DNA;  immunoglobulin A;  integrin;  interleukin 2;  interleukin 21;  microRNA;  protein glutamine gamma glutamyltransferase 2, Article;  bioinformatics;  celiac disease;  cell adhesion;  cell motility;  clinical article;  controlled study;  DNA isolation;  endothelium cell;  gene;  gene frequency;  gene replication;  genetic analysis;  genetic predisposition;  genetic risk;  genetic susceptibility;  genetic variability;  genomics;  Greece;  HoxB6 gene;  HoxD12 gene;  human;  KIAA1109 gene;  NCK2 gene;  next generation sequencing;  protein structure;  Serbian (citizen);  single nucleotide polymorphism;  SLC9A4 gene;  binding site;  celiac disease;  child;  genetic association study;  genetics;  high throughput sequencing;  molecular model;  mutation;  risk factor, Binding Sites;  Celiac Disease;  Child;  Gene Frequency;  Genetic Association Studies;  Genetic Predisposition to Disease;  High-Throughput Nucleotide Sequencing;  Humans;  Models, Molecular;  Mutation;  Polymorphism, Single Nucleotide;  Risk Factors",
    abstract = "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. © 2016 The Author(s)."
}