Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants

Gut
Sumit PaliwalGiriraj Ratan Chandak

Abstract

In a previous study, the authors have shown that rather than variants in trypsinogen gene(s), mutations in pancreatic secretory trypsin inhibitor (encoded by SPINK1) and cathepsin B (CTSB) are associated with tropical calcific pancreatitis (TCP). Recently, chymotrypsin C (CTRC) variants that diminish its activity or secretion were found to predict susceptibility to chronic pancreatitis (CP). The authors analysed CTRC variants in a large, ethnically matched case-control TCP cohort. The authors sequenced all eight exons and flanking regions in CTRC in 584 CP patients (497 TCP, 87 idiopathic CP) and 598 normal subjects and analysed the significance of association using χ(2) test. The authors also investigated interaction of CTRC variants with p.N34S SPINK1 and p.L26V CTSB mutations. The authors identified 14 variants in CTRC, 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...Continue Reading

References

Sep 3, 1998·The New England Journal of Medicine·N SharerJ Braganza
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Mar 1, 2006·The Journal of Biological Chemistry·Zsófia Nemoda, Miklós Sahin-Tóth
Jul 11, 2006·European Journal of Human Genetics : EJHG·Emmanuelle MassonClaude Férec
Oct 31, 2006·Nature Genetics·Cédric Le MaréchalClaude Férec
Jun 27, 2007·Proceedings of the National Academy of Sciences of the United States of America·Richárd Szmola, Miklós Sahin-Tóth
Dec 8, 2007·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Emmanuelle MassonClaude Férec
Aug 30, 2008·Journal of Molecular Biology·Chung-Jung TsaiRuth Nussinov
May 1, 2009·European Journal of Gastroenterology & Hepatology·Monique H M DerikxJoost P H Drenth
May 7, 2009·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Deepak K BhasinBirinder Nagi

❮ Previous
Next ❯

Citations

Jul 18, 2014·Current Opinion in Gastroenterology·Anand R Gupte, Chris E Forsmark
Jun 26, 2015·Journal of Gastroenterology and Hepatology·Steffie Urmila AvanthiRupjyoti Talukdar
Feb 14, 2014·The Tohoku Journal of Experimental Medicine·Atsushi Masamune
Jun 1, 2013·Molecular Genetics and Metabolism·Emmanuelle MassonClaude Férec
Apr 30, 2013·Gastroenterology·David C Whitcomb
Sep 1, 2016·Annals of Laboratory Medicine·Sun Mi ChoKyung A Lee
Dec 3, 2015·World Journal of Biological Chemistry·Mineko Tomomura, Akito Tomomura
Jan 16, 2018·Gastroenterology Research and Practice·Yong ChenXiao Ming Zhang
Oct 3, 2017·Journal of Pediatric Gastroenterology and Nutrition·Alicja Monika GrabarczykAgnieszka Magdalena Rygiel
Aug 1, 2014·The Journal of Biological Chemistry·Raghuwansh P SahAshok K Saluja
May 28, 2015·The Journal of Biological Chemistry·András SzabóMiklós Sahin-Tóth
Dec 18, 2014·World Journal of Gastroenterology : WJG·Sumit PaliwalGiriraj R Chandak
Mar 2, 2017·Therapeutic Advances in Gastroenterology·Zachary Zator, David C Whitcomb
Dec 21, 2019·JAMA : the Journal of the American Medical Association·Vikesh K SinghPramod K Garg
Jan 18, 2017·BMC Gastroenterology·Dorota KozielMalgorzata Chlopek
Oct 27, 2016·Journal of Pediatric Gastroenterology and Nutrition·Cheryl E GariepyAliye Uc
May 26, 2017·Digestive Diseases and Sciences·Eszter Hegyi, Miklós Sahin-Tóth
Oct 2, 2020·Journal of Gastroenterology and Hepatology·Rupjyoti TalukdarG Venkat Rao
Dec 2, 2020·Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]·Mohsin AslamD Nageshwar Reddy
Jan 21, 2019·Gastroenterology·Julia MayerleMiklós Sahin-Tóth
Sep 20, 2020·Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]·Emmanuelle GirodonThierry Bienvenu
Aug 27, 2021·Medicines·Akito TomomuraMineko Tomomura

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

© 2021 Meta ULC. All rights reserved