No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort

Human Mutation
Hao WuZhuan Liao

Abstract

Rare functionally defective carboxypeptidase A1 (CPA1) variants have been reported to predispose to nonalcoholic chronic pancreatitis, mainly the idiopathic subtype. However, independent replication has so far been lacking, particularly in Asian cohorts where initial studies employed small sample sizes. Herein we performed targeted next-generation sequencing of the CPA1 gene in 1,112 Han Chinese idiopathic chronic pancreatitis (ICP) patients-the largest ICP cohort so far analyzed in a single population-and 1,580 controls. Sanger sequencing was used to validate called variants, and the CPA1 activity and secretion of all newly found variants were measured. A total of 18 rare CPA1 variants were characterized, 11 of which have not been previously described. However, no significant association was noted with ICP irrespective of whether all rare variants [20 out of 1,112 (1.8%) in patients vs. 24 out of 1,580 (1.52%) in controls; P = 0.57] or functionally impaired variants [three out of 1,112 (0.27%) in patients vs. two out of 1,580 (0.13%) in controls; P = 0.68] were considered.

References

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
May 21, 2009·Annual Review of Genomics and Human Genetics·Jian-Min Chen, Claude Férec
Oct 9, 2009·Nature·Teri A ManolioPeter M Visscher
May 19, 2012·Science·Jacob A TennessenUNKNOWN NHLBI Exome Sequencing Project
Jun 1, 2012·Science Translational Medicine·Tim ForshewNitzan Rosenfeld
Jun 26, 2012·Nucleic Acids Research·Andreas UntergasserSteven G Rozen
Aug 21, 2013·Nature Genetics·Heiko WittMiklós Sahin-Tóth
Oct 4, 2015·Nature·UNKNOWN 1000 Genomes Project ConsortiumGonçalo R Abecasis
Oct 4, 2015·Nature·Peter H SudmantJan O Korbel
Jan 30, 2016·American Journal of Physiology. Gastrointestinal and Liver Physiology·Anita BalázsMiklós Sahin-Tóth
Mar 5, 2016·Human Mutation·Johan T den DunnenPeter E M Taschner

❮ Previous
Next ❯

Citations

Jun 27, 2017·Current Opinion in Gastroenterology·Miklós Sahin-Tóth
Apr 20, 2018·Proceedings of the National Academy of Sciences of the United States of America·Koji TamuraMichael Goggins
Feb 14, 2019·Human Genomics·Xin-Ying TangJian-Min Chen
Jan 13, 2021·Digestive Diseases and Sciences·Xin-Ying TangZhuan Liao
Mar 25, 2021·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Nan RuZhuan Liao
Aug 31, 2021·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Nan RuZhuan Liao
Nov 25, 2021·International Journal of Cancer. Journal International Du Cancer·Makoto KawamotoMichael Goggins

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.