Novel genetic risk variants for pediatric celiac disease |
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Authors: | Angeliki?Balasopoulou,Biljana?Stankovi?,Angeliki?Panagiotara,Gordana?Nik?evic,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?Radlovic,Bassam?R.?Ali,Joseph?Borg,Radoje?Drmanac,George?Chrousos,Sonja?Pavlovic,Eleftheria?Roma,Branka?Zukic,George?P.?Patrinos,Theodora?Katsila author-information" > author-information__contact u-icon-before" > mailto:thkatsila@upatras.gr" title=" thkatsila@upatras.gr" itemprop=" email" data-track=" click" data-track-action=" Email author" data-track-label=" " >Email author |
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Affiliation: | 1.Department of Pharmacy, School of Health Sciences,University of Patras,Patras,Greece;2.Institute of Molecular Genetics and Genetic Engineering,University of Belgrade,Belgrade,Serbia;3.Complete Genomics Inc.,Mountain View,USA;4.BGI Shenzhen,Shenzhen,China;5.Department of Pathology, College of Medicine and Health Sciences,United Arab Emirates University,Al Ain,United Arab Emirates;6.Department of Immunology and Histocompatibility,“Aghia Sophia” Children’s Hospital,Athens,Greece;7.First Department of Pediatrics,National and Kapodistrian University of Athens Medical School,Athens,Greece;8.Department of Gastroenterology and Nutrition, University Children’s Hospital, Medical Faculty,University of Belgrade,Belgrade,Serbia;9.Department of Applied Biomedical Science, Faculty of Health Sciences,University of Malta,Msida,Malta |
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Abstract: | BackgroundCeliac 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.MethodsHerein, 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.ResultsAnalysis 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.ConclusionsThe 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. |
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