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• W2096666200 abstract "<h3>Objective</h3> In a previous study, the authors have shown that rather than variants in trypsinogen gene(s), mutations in pancreatic secretory trypsin inhibitor (encoded by <i>SPINK1</i>) and cathepsin B (<i>CTSB</i>) are associated with tropical calcific pancreatitis (TCP). Recently, chymotrypsin C (<i>CTRC</i>) variants that diminish its activity or secretion were found to predict susceptibility to chronic pancreatitis (CP). The authors analysed <i>CTRC</i> variants in a large, ethnically matched case-control TCP cohort. <h3>Design</h3> The authors sequenced all eight exons and flanking regions in <i>CTRC</i> in 584 CP patients (497 TCP, 87 idiopathic CP) and 598 normal subjects and analysed the significance of association using χ² test. The authors also investigated interaction of <i>CTRC</i> variants with p.N34S <i>SPINK1</i> and p.L26V <i>CTSB</i> mutations. <h3>Results</h3> The authors identified 14 variants in <i>CTRC</i>, of which non-synonymous variants were detected in 71/584 CP patients (12.2%) and 22/598 controls (3.7%; OR 3.62, 95% CI 2.21 to 5.93; p=6.2×10⁻⁸). Rather than the commonly reported p.K247_R254del variant in Caucasians, p.V235I was the most common mutation in Indian CP patients (28/575 (4.9%); OR 7.60, 95% CI 2.52 to 25.71; p=1.01×10⁻⁵). Another pathogenic variant, p.A73T was identified in 3.1% (18/584) patients compared with 0.3% (2/598) in controls (OR=9.48, 95% CI 2.19 to 41.03, p=2.5×10⁻⁴). The authors also observed significant association for the synonymous variant c.180C>T (p.(=)) with CP (OR 2.71, 95% CI 1.79 to 4.12, p=5.3×10⁻⁷). Two novel nonsense mutations, p.G242AfsX9 and p.W113X were also identified exclusively in CP patients. No interaction between <i>CTRC</i> variants and p.N34S <i>SPINK1</i> or p.L26V <i>CTSB</i> mutations was observed. <h3>Conclusion</h3> This study on a large cohort of TCP patients provides evidence of allelic heterogeneity and confirms that <i>CTRC</i> variants play a significant role in its pathogenesis." @default.
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• W2096666200 date "2012-05-12" @default.
• W2096666200 modified "2023-09-30" @default.
• W2096666200 title "Comprehensive screening of chymotrypsin C (<i>CTRC</i>) gene in tropical calcific pancreatitis identifies novel variants" @default.
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• W2096666200 doi "https://doi.org/10.1136/gutjnl-2012-302448" @default.
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