Search for new candidate genes of alcoholic pancreatitis by whole exome sequencing

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461030
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Gastroenterology
• Research Institution: Tohoku University
• Principal Investigator: Kume Kiyoshi 東北大学, 大学病院, 助教 (30431563)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 膵炎 / 遺伝子異常

Outline of Final Research Achievements

The aim of this study was to identify a new candidate gene responsible for alcoholic pancreatitis. Genomic DNA was prepared from a total of 560 patients with pancreatitis and 439 control subjects. The SureSelect Human All Exon kit was used for the analysis of all exons in 16 patients with alcoholic pancreatitis. There were about 1,340,000 variants in total of the 16 samples. We compared frequency of the residual variants from that of control samples by Human Genetic Variation Browser. Statistically significant difference was observed in the frequency of p.S89R variant in ring finger protein 113B between patients with alcoholic pancreatitis (14.3%; 31/217) and control subjects (6.6%; 29/410) (OR 2.4 p=0.002). The frequency of this variant in patients with non-alcoholic pancreatitis (8.2%; 28/343) was not statistically different from that in controls. Next generation sequencing might become the new strategy to identify the candidate genes for alcoholic pancreatitis.

Free Research Field

膵炎