Skip to main content
Log in

Incidence of Crohn’s disease and CARD15 mutation in a small township in Sicily

  • Genetic Epidemiology
  • Published:
European Journal of Epidemiology Aims and scope Submit manuscript

Abstract

Background: 

The incidence of Crohn’s disease (CD) has been shown to be lower in Southern than in Northern Europe. Data on the frequency of the NOD2/CARD15 mutations for Mediterranean area are very scant.

Aim: 

To determine the incidence of CD from 1979 to 2002 in a township in Sicily together with the allele frequency of NOD2/CARD15 mutations in patients, family members and controls, and to determine the allele frequency of these mutations in sporadic CD from other areas of Sicily in comparison with a control population.

Methods: 

Casteltermini is a small town close to Agrigento (Sicily) with a population of 9,130 inhabitants. All the diagnoses of inflammatory bowel disease (IBD) made from 1979 to 2002 were obtained through the local health authority. NOD2/CARD15 mutations were studied in 23 out of the 29 patients with CD in Casteltermini, in 60 family members and in 64 controls. NOD2/CARD15 was also studied in 80 sporadic cases of CD disease among Sicilians outside Casteltermini and 118 healthy controls.

Results: 

From 1979 to 2002, 29 patients with CD and 13 patients with ulcerative colitis (UC) were registered. The 6-year mean incidence of CD ranged from 8.0 to 17 new cases for every 100,000 inhabitants, whereas the mean incidence of UC ranged from five new cases to 7.8 for every 100,000 inhabitants. The allele frequencies of NOD2/CARD15 mutations (L1007finsC, G908R, R702W) were 8.7, 4.3 and 8.7%, respectively, in CD cases; 5.0, 4.2 and 3.1% in family members; 1.6, 2.3 and 3.1% in controls. In sporadic Sicilian CD patients outside Casteltermini the allele frequency was 7.5, 8.1, 6.2% whereas in control population it was 3.3, 1.6, 1.6%.

Conclusions: 

A high incidence of CD compared with UC was observed in this small town in Southern Italy. The frequency of NOD2/CARD15 mutations in CD is similar to other Caucasian population studied so far.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Katz GA, Fiocchi C. Causes and mechanism of Crohn’s disease. In: Prantera C, Korelitz BI (eds) Crohn’s Disease. New York: Decker, 1996; 9–56

  2. Shivananda S, Lennard-Jones G, Logan R, et al. Incidence of inflammatory bowel disease across Europe. Is there a difference between north and south? Results of the European collaborative study on inflammatory bowel disease (EC-IBD). Gut 1996; 39: 690–697

    Google Scholar 

  3. Cottone M, Cipolla C, Orlando A, Oliva L, Aiala R, Puleo A (1991) Hospital incidence of Crohn’s disease in Sicily Eur J Epidemiol 7: 636–640

    Article  PubMed  CAS  Google Scholar 

  4. Cipolla C, Magliocco A, Oliva L, Cottone M (1996) Familial aggregation of inflammatory bowel disease in a Mediterranean area Eur J Epidemiol 12: 205–208

    Article  PubMed  CAS  Google Scholar 

  5. Hugot JP, Chamaillard M, Zouali H, et al. (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease Nature 411: 599–603

    Article  PubMed  CAS  Google Scholar 

  6. Ogura Y, Inohara N, Benito A, Chen FF, Yamaoka S, Nunez G. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB. J␣Biol Chem 2001; 276(7): 4812–4818, Epub 2000 Nov 21

    Google Scholar 

  7. Vavassori P, Borgiani P, Biancone L, et al. (2004) CARD15 mutation analysis in an Italian population: Leu1007fsinsC but neither Arg702Trp nor Gly908Arg mutations are associated with Crohn’s disease Inflamm Bowel Dis 10:116–121

    Article  PubMed  Google Scholar 

  8. Mendoza JL, Murillo LS, Fernandez L, et al. (2003) Prevalence of mutations of the NOD2/CARD15 gene and relation to phenotype in Spanish patients with Crohn’s disease Scand J Gastroenterol 38: 1235–1240

    Article  PubMed  CAS  Google Scholar 

  9. Roussoumoustakaki M, Koutrobakis I, Vardas E, et al. (2003) NOD2 insertion mutation in a Cretean Crohn’s disease population Gastroenterology 124: 272–273

    Article  Google Scholar 

  10. Fries W, Renda M, Lo Presti M, et al. (2005) Intestinal permeability and genetic determinants in patients, first-degree relatives and controls in a high incidence area of Crohn’s disease in Southern Italy Am J Gastroenterol 100: 2730–2736

    Article  PubMed  CAS  Google Scholar 

  11. Van Kruiningen H, Freda BJ (2001) A clustering of Crohn’s disease in Mankato, Minnesota Inflamm Bowel Dis 7: 27–33

    Article  PubMed  Google Scholar 

  12. Allan RN, Pease P, Ibbotson JP (1986) Clustering of Crohn’s disease in a Cotswold village Q J Med 59: 473–478

    PubMed  CAS  Google Scholar 

  13. Aisenberg J, Janowitz HD (1993) Cluster of inflammatory bowel disease in three college friends J Clin Gastroenterol 17: 18–20

    Article  PubMed  CAS  Google Scholar 

  14. Annese V, Palmieri O, Latiano A, et al. (2004) Frequency of NOD2/CARD15 variants in both spradic and familial cases of Crohn’s disease across Italy. An Italian Group for Inflammatory Bowel Disease study Dig Dis Liver 36: 121–124

    Article  CAS  Google Scholar 

  15. Annese V, Lombardi G, Perri F, et al. (2005) Variants of Card15 are associated with an aggressive clinical course of Crohn’s disease: An IG-IBD study Am J Gastroenterol 100: 84–92

    Article  PubMed  CAS  Google Scholar 

  16. Zoulten-Mekki L, Zaouali H, Boubaker J, et al. (2005) CARD15/NOD2 in a Tunisian population with Crohn’s disease Dig Dis Sci 50: 130–135

    Article  Google Scholar 

  17. Hugot JP, Alberti C, Berrebi D, Bingen E, Cezard JP (2003) Crohn’s disease: The cold chain hypothesis. Lancet 362(9400): 2012–2015

    Google Scholar 

  18. Economou M, Trikalinos T, Loizou KT, Tsianos EV, Joannidis J (2004) Differential effects of NOD2 Variants on Crohn’s disease. Risk and phenotype in diverse populations: A meta-analysis Am J Gastroenterol 99: 2393–2404

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to M. Cottone.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Cottone, M., Renda, M.C., Mattaliano, A. et al. Incidence of Crohn’s disease and CARD15 mutation in a small township in Sicily. Eur J Epidemiol 21, 887–892 (2006). https://doi.org/10.1007/s10654-006-9054-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10654-006-9054-5

Keywords

Navigation