Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan
| Autor: | Eriko Nakano, Atsushi Masamune, Masao Nagasaki, Tetsuya Niihori, Tooru Shimosegawa, Yoko Aoki, Shin Hamada |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Ubiquitin-Protein Ligases Endocrinology Diabetes and Metabolism Read depth Biology Target enrichment DNA sequencing 03 medical and health sciences Exon Gene Frequency Japan Predictive Value of Tests Pancreatitis Chronic medicine Humans Coding region Computer Simulation Gene Genetics Hepatology Pancreatic exocrine insufficiency Gastroenterology Computational Biology Genetic Variation DNA Exons medicine.disease Molecular biology 030104 developmental biology Pancreatitis |
| Zdroj: | Pancreatology. 16:814-818 |
| ISSN: | 1424-3903 |
| Popis: | Background/objectives The UBR1 gene encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1. Loss-of-function mutations in the UBR1 gene cause Johanson-Blizzard syndrome, which involves pancreatic exocrine insufficiency. No previous studies have examined an association of UBR1 variants with pancreatitis, in part due to the large size of the gene. This study aimed to clarify whether UBR1 variants are associated with chronic pancreatitis (CP) by the application of targeted next generation sequencing. Methods Exon sequences of the UBR1 gene from 389 Japanese patients with CP (188 idiopathic, 172 alcoholic, 20 hereditary, 9 familial) were captured by the HaloPlex target enrichment technology and subjected to next generation sequencing. Results Ninety nine point two % of the coding regions of the UBR1 gene could be sequenced by ≥ 20 reads with a mean read depth of 595 and a median depth of 399. Fifteen non-synonymous variants including three novel ones [c.4514T > C (p.I1505T), c.4828C > G (p.H1610D) and c.4856A > T (p.D1619V)] and two synonymous variants were identified in the exonic regions. The frequency of any non-synonymous or synonymous variants was not different between the patients with CP and controls. Conclusions Variants in the UBR1 gene were not associated with CP in Japan. |
| Databáze: | OpenAIRE |
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