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We read with great interest the recent paper by Rosendahl et al1 describing the incidence of variants in CFTR, SPINK1, CTRC and PRSS1 in a German cohort of chronic pancreatitis cases. The authors conclude that chronic pancreatitis is a complex genetic disease and the net effect of mutations in multiple susceptibility genes underlies increased disease risk. Indeed, in the studied cohort, at least one genetic risk factor was identified in 36.7% of patients. Surprisingly, however, only 6.5% of cases carried multiple risk factors, which seems to contradict the complex genetics theory of chronic pancreatitis. While it is likely that more susceptibility genes are yet to be discovered, we submit that known risk genes may have been incompletely characterised resulting in underestimation of the true genetic burden in chronic pancreatitis. Discovery studies tend to focus on exons and exon-intron boundaries and may thus miss many intronic variants. Replication studies often target previously identified variants only. Even if identified, intronic variants other than splice site mutations are often ignored due to inherent …
Author note Gene symbols: CFTR, cystic fibrosis transmembrane conductance regulator; CTRC, chymotrypsinogen C; PRSS1, serine protease 1 (human cationic trypsinogen); SPINK1, serine protease inhibitor Kazal type 1 (pancreatic secretory trypsin inhibitor).
Contributors SB and MS-T designed and executed the study and wrote the manuscript.
Funding These studies were supported by NIH grants R01DK082412, R01DK058088 and R01DK095753 to MS-T.
Competing interests None.
Provenance and peer review Not commissioned; internally peer reviewed.