6.7 ABO Blood Type B and Fucosyltransferase 2 Non-...
Elevated serum lipase activity，at least three times the upper limit of normal，is a diagnostic marker of acute pancreatitis.Weiss and coworkers recently performed a two-step analysis to investigate whether high serum lipase activity confers an increased risk of chronic pancreatitis（Weiss et al.2015）.First，they found a significant association between higher serum lipase activity and three SNPs as well as the fucosyltransferase 2（FUT2）non-secretor status（homozygosity for the FUT2 p.Trp 134Ter mutation）and the ABO blood type B by performing a GWAS on 3966 German volunteers from the population-based Study-of-Health-in-Pomerania with replication in 1444 blood donors.Then，they analysed FUT2 non-secretor status and ABO blood type B in more than 1000 patients with chronic pancreatitis，demonstrating a significant association for both factors（Weiss et al.2015）.These findings remain to be replicated using larger sample sizes and taking into considerations environmental factors（Kirsten et al.2016；Weiss et al.2016）.
Conclusions(https://www.daowen.com)
As opined by Molven and colleagues，the description of the CEL genetic variants associated with pancreatic disease suggests that there may be multiple pathways that lead to the development of chronic pancreatitis（Molven et al.2016）.In support of this idea，these authors cited the recent description of a mutation in the PNLIP gene（encoding pancreatic lipase）in two brothers with probable chronic pancreatitis（Behar et al.2014；Szabó et al.2015b）.Because CEL and PNLIP have no apparent role in trypsinogen activation，risk variants found in these genes should predispose to chronic pancreatitis through a trypsinindependent pathway.It is clear that in the 20th anniversary year of the 1996 landmark discovery of the PRSS1 gain-of-function missense mutation causing hereditary pancreatitis（Whitcomb et al.1996a），our understanding of the pathogenetics of chronic pancreatitis is still very far from complete.
Acknowledgments The work was supported by the Conseil Régional de Bretagne，the Association des Pancréatites Chroniques Héréditaires，the Association de Transfusion Sanguine et de Biogénétique Gaetan Saleun，and the Institut National de la Santé et de la Recherche Médicale（INSERM），France；and the National Natural Science Foundation of China（81470884 and 81422010 to ZL），the Shuguang Program of Shanghai Education Development Foundation and Shanghai Municipal Education Commission（15SG33 to ZL）and the Chang Jiang Scholars Program of Ministry of Education（Q2015190 to ZL），China.