Novel genetic risk variants for pediatric celiac disease.
作者： Angeliki Balasopoulou , Biljana Stanković , Angeliki Panagiotara , Gordana Nikčevic , Brock A. Peters
DOI: 10.1186/S40246-016-0091-1
关键词:
摘要: Celiac disease is a complex chronic immune-mediated disorder of the small intestine. Today, pathobiology unclear, perplexing differential diagnosis, patient stratification, and decision-making in clinic. Herein, we adopted next-generation sequencing approach celiac trio Greek descent to identify all genomic variants with potential predisposition. Analysis revealed six prime interest: SLC9A4 c.1919G>A, KIAA1109 c.2933T>C c.4268_4269delCCinsTA, HoxB6 c.668C>A, HoxD12 c.418G>A, NCK2 c.745_746delAAinsG, from which c.745_746delAAinsG novel. Data validation pediatric patients (n = 109) Serbian (n = 73) their healthy counterparts (n = 111 n = 32, respectively) indicated that c.418G>A more prevalent population (P A c.4268_4269delCCinsTA were abundant patients; nevertheless, they failed show statistical significance. The sequencing-based family genomics described herein may serve as paradigm towards identification novel functional aim understanding pathobiology.
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