TY  - JOUR
AU  - Balasopoulou, Angeliki
AU  - Stanković, Biljana
AU  - Panagiotara, Angeliki
AU  - Nikčević, Gordana
AU  - Peters, Brock A.
AU  - John, Anne
AU  - Mendrinou, Effrosyni
AU  - Stratopoulos, Apostolos
AU  - Legaki, Aigli Ioanna
AU  - Stathakopoulou, Vasiliki
AU  - Tsolia, Aristoniki
AU  - Govaris, Nikolaos
AU  - Govari, Sofia
AU  - Zagoriti, Zoi
AU  - Poulas, Konstantinos
AU  - Kanariou, Maria
AU  - Constantinidou, Nikki
AU  - Krini, Maro
AU  - Spanou, Kleopatra
AU  - Radlović, Nedeljko
AU  - Ali, Bassam R.
AU  - Borg, Joseph
AU  - Drmanac, Radoje
AU  - Chrousos, George
AU  - Pavlović, Sonja
AU  - Roma, Eleftheria
AU  - Zukić, Branka
AU  - Patrinos, George P.
AU  - Katsila, Theodora
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/918
AB  - 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 gt A, KIAA1109 c.2933T gt C and c. 4268_4269delCCinsTA, HoxB6 c.668C gt A, HoxD12 c.418G gt 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 gt A is more prevalent in celiac disease patients in the Serbian population (P  lt  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 gt A and KIAA1109 c.2933T gt 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.
PB  - Biomed Central Ltd, London
T2  - Human Genomics
T1  - Novel genetic risk variants for pediatric celiac disease
VL  - 10
DO  - 10.1186/s40246-016-0091-1
ER  - 

@article{
author = "Balasopoulou, Angeliki and Stanković, Biljana and Panagiotara, Angeliki and Nikčević, Gordana and Peters, Brock A. and John, Anne and Mendrinou, Effrosyni and Stratopoulos, Apostolos and Legaki, Aigli Ioanna and Stathakopoulou, Vasiliki and Tsolia, Aristoniki and Govaris, Nikolaos and Govari, Sofia and Zagoriti, Zoi and Poulas, Konstantinos and Kanariou, Maria and Constantinidou, Nikki and Krini, Maro and Spanou, Kleopatra and Radlović, Nedeljko and Ali, Bassam R. and Borg, Joseph and Drmanac, Radoje and Chrousos, George and Pavlović, Sonja and Roma, Eleftheria and Zukić, Branka and Patrinos, George P. and Katsila, Theodora",
year = "2016",
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 gt A, KIAA1109 c.2933T gt C and c. 4268_4269delCCinsTA, HoxB6 c.668C gt A, HoxD12 c.418G gt 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 gt A is more prevalent in celiac disease patients in the Serbian population (P  lt  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 gt A and KIAA1109 c.2933T gt 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.",
publisher = "Biomed Central Ltd, London",
journal = "Human Genomics",
title = "Novel genetic risk variants for pediatric celiac disease",
volume = "10",
doi = "10.1186/s40246-016-0091-1"
}

Balasopoulou, A., Stanković, B., Panagiotara, A., Nikčević, G., Peters, B. A., John, A., Mendrinou, E., Stratopoulos, A., Legaki, A. I., Stathakopoulou, V., Tsolia, A., Govaris, N., Govari, S., Zagoriti, Z., Poulas, K., Kanariou, M., Constantinidou, N., Krini, M., Spanou, K., Radlović, N., Ali, B. R., Borg, J., Drmanac, R., Chrousos, G., Pavlović, S., Roma, E., Zukić, B., Patrinos, G. P.,& Katsila, T.. (2016). Novel genetic risk variants for pediatric celiac disease. in Human Genomics
Biomed Central Ltd, London., 10.
https://doi.org/10.1186/s40246-016-0091-1

Balasopoulou A, Stanković B, Panagiotara A, Nikčević G, Peters BA, John A, Mendrinou E, Stratopoulos A, Legaki AI, Stathakopoulou V, Tsolia A, Govaris N, Govari S, Zagoriti Z, Poulas K, Kanariou M, Constantinidou N, Krini M, Spanou K, Radlović N, Ali BR, Borg J, Drmanac R, Chrousos G, Pavlović S, Roma E, Zukić B, Patrinos GP, Katsila T. Novel genetic risk variants for pediatric celiac disease. in Human Genomics. 2016;10.
doi:10.1186/s40246-016-0091-1 .

Balasopoulou, Angeliki, Stanković, Biljana, Panagiotara, Angeliki, Nikčević, Gordana, Peters, Brock A., John, Anne, Mendrinou, Effrosyni, Stratopoulos, Apostolos, Legaki, Aigli Ioanna, Stathakopoulou, Vasiliki, Tsolia, Aristoniki, Govaris, Nikolaos, Govari, Sofia, Zagoriti, Zoi, Poulas, Konstantinos, Kanariou, Maria, Constantinidou, Nikki, Krini, Maro, Spanou, Kleopatra, Radlović, Nedeljko, Ali, Bassam R., Borg, Joseph, Drmanac, Radoje, Chrousos, George, Pavlović, Sonja, Roma, Eleftheria, Zukić, Branka, Patrinos, George P., Katsila, Theodora, "Novel genetic risk variants for pediatric celiac disease" in Human Genomics, 10 (2016),
https://doi.org/10.1186/s40246-016-0091-1 . .