Germline mutations and gene polymorphism associated with human pancreatitis

Endocrinology and Metabolism Clinics of North America
F U WeissM M Lerch

Abstract

A wide range of mutations and polymorphisms in genes that relate to pancreatic function seem to be involved in the development of pancreatitis. Some of these genetic alterations lead to disease phenotypes with unequivocal mendelian inheritance patterns, whereas others seem to act as modifier genes in conjunction with environ-mental or, as yet unidentified, genetic cofactors. This article reviews germline changes in the genes for trypsin, pancreatic secretory trypsin inhibitor, the cystic fibrosis conductance regulator, lipid metabolism proteins, inflammatory mediators for cytokines, and cathepsin B.

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Jan 4, 2007·The Journal of Clinical Investigation·M Bishr OmaryStephen J Pandol
Aug 17, 2011·International Journal of Environmental Research and Public Health·Marianges Zadrozny Gouvêa da CostaFlair José Carrilho
Apr 17, 2010·Mediators of Inflammation·Gül OzhanBuket Alpertunga

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