The SPINK1 p.N34S (rs17107315; c.101A>G) haplotype is the most relevant risk factor for idiopathic chronic pancreatitis (ICP). SPINK1 protects the pancreas from prematurely activated trypsin. Excess trypsin activation is a major cause for ICP initiation and progression. Based on genetic association, affinity chromatography and proteomics analysis, we functionally investigated rs148911734 as the potential pathological variant and GATA6 as the most promising factor and potential transcriptional repressor at this site.
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The SPINK1 p.N34S (rs17107315; c.101A>G) haplotype is the most relevant risk factor for idiopathic chronic pancreatitis (ICP). SPINK1 protects the pancreas from prematurely activated trypsin. Excess trypsin activation is a major cause for ICP initiation and progression. Based on genetic association, affinity chromatography and proteomics analysis, we functionally investigated rs148911734 as the potential pathological variant and GATA6 as the most promising factor and potential transcriptional r...
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