Homozygotes were identified for three mutations: CPA1(NM_001868.4)c.696 + 27del, identified in 7/184 controls and 11/301 AP; CPA1(NM_001868.4)c.622G>A (p.Ala208Thr), identified in 1/301 AP; and the CPA1(NM_001868.4)c.696 + 28insA mutation, identified in 2/301 patients with acute pancreatitis. Here, CPA1 is linked to acute pancreatitis.