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PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan
  1. Atsushi Masamune,
  2. Eriko Nakano,
  3. Kiyoshi Kume,
  4. Tetsuya Takikawa,
  5. Yoichi Kakuta,
  6. Tooru Shimosegawa
  1. Division of Gastroenterology, Tohoku University Graduate School of Medicine, Sendai, Japan
  1. Correspondence to Dr Atsushi Masamune, Division of Gastroenterology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan; amasamune{at}med.tohoku.ac.jp

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We read with great interest the article by Schnúr et al1 reporting the functional effects of 13 serine protease 1 (PRSS1) variants found in sporadic chronic pancreatitis (CP). They reported that five mutants, including p.G208A, showed reduced secretion, suggesting that these variants might increase the risk of pancreatitis related to mutation-induced misfolding and consequent endoplasmic reticulum stress. The pathological role of these variants might be strengthened by their association with pancreatitis cohorts, but such information is scarce. Interestingly, the c.623G>C (p.G208A) variant has been reported only in Asian subjects: a 12-year-old Asian man with CP, a Korean child with recurrent pancreatitis and a 7-year-old Korean child with necrotising acute pancreatitis.2 ,3 We therefore conducted screening of the PRSS1 p.G208A variant in Japanese patients with CP. All of the exons and the flanking regions in …

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