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Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers.

Publication ,  Journal Article
Cohn, JA; Neoptolemos, JP; Feng, J; Yan, J; Jiang, Z; Greenhalf, W; McFaul, C; Mountford, R; Sommer, SS
Published in: Hum Mutat
October 2005

Cystic fibrosis (CF) is a recessive disease caused by mutations of the CF transmembrane conductance regulator (CFTR) gene. The risk of idiopathic chronic pancreatitis (ICP) is increased in individuals who have CFTR genotypes containing a CF-causing mutation plus a second pathogenic allele. It is unknown whether the risk of ICP is increased in CF carriers who have one CF-causing mutation plus one normal allele. In this study, 52 sporadic cases of ICP were ascertained through the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer. Individuals with pathogenic cationic trypsinogen mutations were excluded. DNA was comprehensively tested for CFTR mutations using a robotically enhanced, multiplexed, and highly redundant form of single-strand conformation polymorphism (SSCP) analysis followed by DNA sequencing. Fifteen subjects had a total of 18 pathogenic CFTR alleles. Eight subjects had common CF-causing mutations. This group included seven CF carriers in whom the second CFTR allele was normal (4.3 times the expected frequency, P=0.0002). Three subjects had compound heterozygotes genotypes containing two pathogenic alleles (31 times the expected frequency, P<0.0001). A variant allele of uncertain significance (p.R75Q) was detected in eight of the 52 ICP subjects and at a similar frequency (13/96) in random donors. ICP differs from other established CFTR-related conditions in that ICP risk is increased in CF carriers who have one documented normal CFTR allele. Having two CFTR mutations imparts a higher relative risk, while having only one mutation imparts a higher attributable risk.

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Published In

Hum Mutat

DOI

EISSN

1098-1004

Publication Date

October 2005

Volume

26

Issue

4

Start / End Page

303 / 307

Location

United States

Related Subject Headings

  • Risk Factors
  • Pancreatitis, Chronic
  • Mutation
  • Male
  • Humans
  • Heterozygote
  • Genetics & Heredity
  • Genetic Testing
  • Genetic Predisposition to Disease
  • Female
 

Citation

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Cohn, J. A., Neoptolemos, J. P., Feng, J., Yan, J., Jiang, Z., Greenhalf, W., … Sommer, S. S. (2005). Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers. Hum Mutat, 26(4), 303–307. https://doi.org/10.1002/humu.20232
Cohn, Jonathan A., John P. Neoptolemos, Jinong Feng, Jin Yan, Zefei Jiang, William Greenhalf, Christopher McFaul, Roger Mountford, and Steve S. Sommer. “Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers.Hum Mutat 26, no. 4 (October 2005): 303–7. https://doi.org/10.1002/humu.20232.
Cohn JA, Neoptolemos JP, Feng J, Yan J, Jiang Z, Greenhalf W, et al. Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers. Hum Mutat. 2005 Oct;26(4):303–7.
Cohn, Jonathan A., et al. “Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers.Hum Mutat, vol. 26, no. 4, Oct. 2005, pp. 303–07. Pubmed, doi:10.1002/humu.20232.
Cohn JA, Neoptolemos JP, Feng J, Yan J, Jiang Z, Greenhalf W, McFaul C, Mountford R, Sommer SS. Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers. Hum Mutat. 2005 Oct;26(4):303–307.
Journal cover image

Published In

Hum Mutat

DOI

EISSN

1098-1004

Publication Date

October 2005

Volume

26

Issue

4

Start / End Page

303 / 307

Location

United States

Related Subject Headings

  • Risk Factors
  • Pancreatitis, Chronic
  • Mutation
  • Male
  • Humans
  • Heterozygote
  • Genetics & Heredity
  • Genetic Testing
  • Genetic Predisposition to Disease
  • Female