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Cited by 357

The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Open access
Alzheimer's Disease Genetics Consortium, Whitcomb, David C, LaRusch, Jessica, Krasinskas, Alyssa M, Klei, Lambertus, Smith, Jill P, Brand, Randall E, Neoptolemos, John P, Lerch, Markus M, Tector, Matt, Sandhu, Bimaljit S, Guda, Nalini M, Orlichenko, Lidiya, Alkaade, Samer, Amann, Stephen T, Anderson, Michelle A, Baillie, John, Banks, Peter A, Conwell, Darwin, Coté, Gregory A, Cotton, Peter B, DiSario, James, Farrer, Lindsay A, Forsmark, Chris E, Johnstone, Marianne, Gardner, Timothy B, Gelrud, Andres, Greenhalf, William, Haines, Jonathan L, Hartman, Douglas J, Hawes, Robert A, Lawrence, Christopher, Lewis, Michele, Mayerle, Julia, Mayeux, Richard, Melhem, Nadine M, Money, Mary E, Muniraj, Thiruvengadam, Papachristou, Georgios I, Pericak-Vance, Margaret A, Romagnuolo, Joseph, Schellenberg, Gerard D, Sherman, Stuart, Simon, Peter, Singh, Vijay P, Slivka, Adam, Stolz, Donna, Sutton, Robert, Weiss, Frank Ulrich, Wilcox, C Mel, Zarnescu, Narcis Octavian, Wisniewski, Stephen R, O'Connell, Michael R, Kienholz, Michelle L, Roeder, Kathryn, Barmada, M Michael, Yadav, Dhiraj, Devlin, Bernie·2012·Nature Genetics
DOI 10.1038/ng.2466
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Abstract

Pancreatitis is a complex, progressively destructive inflammatory disorder. Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk. We now report two associations at genome-wide significance identified and replicated at PRSS1-PRSS2 (P < 1 × 10−12) and X-linked CLDN2 (P < 1 × 10−21) through a two-stage genome-wide study (stage 1: 676 cases and 4,507 controls; stage 2: 910 cases and 4,170 controls). The PRSS1 variant likely affects disease susceptibility by altering expression of the primary trypsinogen gene. The CLDN2 risk allele is associated with atypical localization of claudin-2 in pancreatic acinar cells. The homozygous (or hemizygous in males) CLDN2 genotype confers the greatest risk, and its alleles interact with alcohol consumption to amplify risk. These results could partially explain the high frequency of alcohol-related pancreatitis in men (male hemizygote frequency is 0.26, whereas female homozygote frequency is 0.07).

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Authors
Alzheimer's Disease Genetics Consortium, Whitcomb, D. C., LaRusch, J., Krasinskas, A. M., Klei, L., Smith, J. P., Brand, R. E., Neoptolemos, J. P., Lerch, M. M., Tector, M., Sandhu, B. S., Guda, N. M., Orlichenko, L., Alkaade, S., Amann, S. T., Anderson, M. A., Baillie, J., Banks, P. A., Conwell, D., Coté, G. A., Cotton, P. B., DiSario, J., Farrer, L. A., Forsmark, C. E., Johnstone, M., Gardner, T. B., Gelrud, A., Greenhalf, W., Haines, J. L., Hartman, D. J., Hawes, R. A., Lawrence, C., Lewis, M., Mayerle, J., Mayeux, R., Melhem, N. M., Money, M. E., Muniraj, T., Papachristou, G. I., Pericak-Vance, M. A., Romagnuolo, J., Schellenberg, G. D., Sherman, S., Simon, P., Singh, V. P., Slivka, A., Stolz, D., Sutton, R., Weiss, F. U., Wilcox, C. M., Zarnescu, N. O., Wisniewski, S. R., O'Connell, M. R., Kienholz, M. L., Roeder, K., Barmada, M. M., Yadav, D., & Devlin, B.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2012-11-11
Volume
44
Issue
12
Pages
1349-1354
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.2466
OpenAlex
W2125385355
Cited by
357
References
47
FWCI
19.24
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. https://app.cochat.ai/papers/10.1038/ng.2466
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Alzheimer's Disease Genetics Consortium, Whitcomb, D. C., LaRusch, J., Krasinskas, A. M., Klei, L., Smith, J. P., Brand, R. E., Neoptolemos, J. P., Lerch, M. M., Tector, M., Sandhu, B. S., Guda, N. M., Orlichenko, L., Alkaade, S., Amann, S. T., Anderson, M. A., Baillie, J., Banks, P. A., Conwell, D., . . . Devlin, B. (2012). Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. Nature Genetics. https://doi.org/10.1038/ng.2466

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.