Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients

Whitcomb, 1996, Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene, Nat Genet, 14, 141, 10.1038/ng1096-141 Witt, 2000, Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis, Nat Genet, 25, 213, 10.1038/76088 Rosendahl, 2008, Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis, Nat Genet, 40, 78, 10.1038/ng.2007.44 Grabarczyk, 2017, Chymotrypsinogen C genetic variants, including c.180TT, are strongly associated with chronic pancreatitis in pediatric patients, J Pediatr Gastroenterol Nutr, 65, 652, 10.1097/MPG.0000000000001767 Hegyi, 2017, Genetic risk in chronic pancreatitis:The trypsin-dependent pathway, Dig Dis Sci, 62, 1692, 10.1007/s10620-017-4601-3 Witt, 2013, Variants in CPA1 are strongly associated with early onset chronic pancreatitis, Nat Genet, 45, 1216, 10.1038/ng.2730 Kujko, 2017, A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis, Gut, 66, 1728, 10.1136/gutjnl-2017-313816 Nemeth, 2017, Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis, Gut, 66, 1727, 10.1136/gutjnl-2016-313451 Sahin-Toth, 2017, Genetic risk in chronic pancreatitis: the misfolding-dependent pathway, Curr Opin Gastroenterol, 33, 390, 10.1097/MOG.0000000000000380 Masamune, 2020, Variants that affect function of calcium channel TRPV6 are associated with early-onset chronic pancreatitis, Gastroenterology, 158, 1626, 10.1053/j.gastro.2020.01.005 Sahin-Toth, 2020, Channelopathy of the pancreas causes chronic pancreatitis, Gastroenterology, 158, 1538, 10.1053/j.gastro.2020.03.027 Mayerle, 2019, Genetics, cell biology, and pathophysiology of pancreatitis, Gastroenterology, 156, 1951, 10.1053/j.gastro.2018.11.081 Saotome, 2016, Crystal structure of the epithelial calcium channel TRPV6, Nature, 534, 506, 10.1038/nature17975 Segerstolpe, 2016, Cell transcriptome profiling of human pancreatic islets in health and type 2 diabetes, Cell Metabol, 24, 593, 10.1016/j.cmet.2016.08.020 Zou, 2020, TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population, Hum Mutat, 41, 1351, 10.1002/humu.24032 Morinville, 2012, Definitions of pediatric pancreatitis and survey of present clinical practices, J Pediatr Gastroenterol Nutr, 55, 261, 10.1097/MPG.0b013e31824f1516 Grynkiewicz, 1985, A new generation of Ca2+ indicators with greatly improved fluorescence properties, J Biol Chem, 260, 3440, 10.1016/S0021-9258(19)83641-4 Suski, 2014, Isolation of plasma membrane-associated membranes from rat liver, Nat Protoc, 9, 312, 10.1038/nprot.2014.016 Kovacs, 2011, Heavy metal cations permeate the TRPV6 epithelial cation channel, Cell Calcium, 49, 43, 10.1016/j.ceca.2010.11.007 McGoldrick, 2018, Opening of the human epithelial calcium channel TRPV6, Nature, 553, 233, 10.1038/nature25182 Bate, 2018, A novel mechanism for calmodulin-dependent inactivation of transient receptor potential vanilloid 6, Biochemistry, 57, 2611, 10.1021/acs.biochem.7b01286 Singh, 2017, Swapping of transmembrane domains in the epithelial calcium channel TRPV6, Sci Rep, 7, 10669, 10.1038/s41598-017-10993-9 Fecher-Trost, 2013, The in vivo TRPV6 protein starts at a non-AUG triplet, decoded as methionine, upstream of canonical initiation at AUG, J Biol Chem, 288, 16629, 10.1074/jbc.M113.469726 Phelps, 2008, Structural analyses of the ankyrin repeat domain of TRPV6 and related TRPV ion channels, Biochemistry, 47, 2476, 10.1021/bi702109w Bhardwaj, 2020, Inactivation-mimicking block of the epithelial calcium channel TRPV6, Sci. Adv., 6, 10.1126/sciadv.abe1508 Fecher-Trost, 2017, TRPV6: from identification to function, Cell Calcium, 67, 116, 10.1016/j.ceca.2017.04.006