Novel genetic risk variants for pediatric celiac disease
2016
Аутори
Balasopoulou, AngelikiStanković, 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
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
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 l...ess 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.
Кључне речи:
Next-generation sequencing / Genomic variants / Family genomics / Disease predisposition / Celiac diseaseИзвор:
Human Genomics, 2016, 10Издавач:
- Biomed Central Ltd, London
Финансирање / пројекти:
- European Commission (RD-CONNECT) [FP7-304555]
DOI: 10.1186/s40246-016-0091-1
ISSN: 1473-9542
PubMed: 27836013
WoS: 000387507500001
Scopus: 2-s2.0-84999143641
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - 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 . .