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Novel genetic risk variants for pediatric celiac disease
dc.creator | Balasopoulou, Angeliki | |
dc.creator | Stanković, Biljana | |
dc.creator | Panagiotara, Angeliki | |
dc.creator | Nikčević, Gordana | |
dc.creator | Peters, Brock A. | |
dc.creator | John, Anne | |
dc.creator | Mendrinou, Effrosyni | |
dc.creator | Stratopoulos, Apostolos | |
dc.creator | Legaki, Aigli Ioanna | |
dc.creator | Stathakopoulou, Vasiliki | |
dc.creator | Tsolia, Aristoniki | |
dc.creator | Govaris, Nikolaos | |
dc.creator | Govari, Sofia | |
dc.creator | Zagoriti, Zoi | |
dc.creator | Poulas, Konstantinos | |
dc.creator | Kanariou, Maria | |
dc.creator | Constantinidou, Nikki | |
dc.creator | Krini, Maro | |
dc.creator | Spanou, Kleopatra | |
dc.creator | Radlović, Nedeljko | |
dc.creator | Ali, Bassam R. | |
dc.creator | Borg, Joseph | |
dc.creator | Drmanac, Radoje | |
dc.creator | Chrousos, George | |
dc.creator | Pavlović, Sonja | |
dc.creator | Roma, Eleftheria | |
dc.creator | Zukić, Branka | |
dc.creator | Patrinos, George P. | |
dc.creator | Katsila, Theodora | |
dc.date.accessioned | 2022-11-15T14:41:25Z | |
dc.date.available | 2022-11-15T14:41:25Z | |
dc.date.issued | 2016 | |
dc.identifier.issn | 1473-9542 | |
dc.identifier.uri | https://imagine.imgge.bg.ac.rs/handle/123456789/918 | |
dc.description.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. | en |
dc.publisher | Biomed Central Ltd, London | |
dc.relation | European Commission (RD-CONNECT) [FP7-304555] | |
dc.rights | openAccess | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.source | Human Genomics | |
dc.subject | Next-generation sequencing | en |
dc.subject | Genomic variants | en |
dc.subject | Family genomics | en |
dc.subject | Disease predisposition | en |
dc.subject | Celiac disease | en |
dc.title | Novel genetic risk variants for pediatric celiac disease | en |
dc.type | article | |
dc.rights.license | BY | |
dc.citation.other | 10() | |
dc.citation.rank | M22 | |
dc.citation.volume | 10 | |
dc.identifier.doi | 10.1186/s40246-016-0091-1 | |
dc.identifier.fulltext | https://imagine.imgge.bg.ac.rs/bitstream/id/822/915.pdf | |
dc.identifier.pmid | 27836013 | |
dc.identifier.scopus | 2-s2.0-84999143641 | |
dc.identifier.wos | 000387507500001 | |
dc.type.version | publishedVersion |