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Exonic variants affecting pre-mRNA splicing add to genetic burden in chronic pancreatitis
  1. Sebastian Beer1,2,
  2. Miklós Sahin-Tóth1
  1. 1Department of Molecular and Cell Biology, Henry M. Goldman School of Dental Medicine, Boston University, Boston, Massachusetts, USA
  2. 2Department for Internal Medicine, Neurology and Dermatology, Division of Gastroenterology, University of Leipzig, Leipzig, Germany
  1. Correspondence to Dr Miklós Sahin-Tóth, Department of Molecular and Cell Biology, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA; miklos{at}bu.edu

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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 …

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