Article Text

Download PDFPDF
Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations
  1. V Annese1,
  2. A Latiano1,
  3. O Palmieri1,2,
  4. H-H Li3,
  5. P Forabosco4,
  6. A Ferraris5,
  7. A Andriulli1,
  8. M Vecchi6,
  9. S Ardizzone7,
  10. M Cottone8,
  11. B Dallapiccola5,
  12. E Rappaport9,
  13. P Fortina2,
  14. M Devoto3,10
  1. 1Divisione di Gastroenterologia, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
  2. 2Center for Translational Medicine, Department of Medicine, Thomas Jefferson University, Philadelphia, PA, USA
  3. 3Department of Biomedical Research, Nemours Children’s Clinic, Wilmington, DE, USA
  4. 4Istituto di Genetica delle Popolazioni, CNR, Alghero (SS), Italy
  5. 5IRCCS CSS San Giovanni Rotondo and CSS-Mendel, Roma and Dipartimento di Medicina Sperimentale e Patologia, Universita’ La Sapienza, Roma, Italy
  6. 6IRCCS Ospedale Maggiore, Milano, Italy
  7. 7Ospedale Sacco, Milano, Italy
  8. 8Ospedale Cervello, Palermo, Italy
  9. 9Joseph Stokes Jr Research Institute, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
  10. 10Dipartimento di Oncologia, Biologia e Genetica, Universita’ di Genova, Italy
  1. Correspondence to:
 Dr M Devoto
 Genetic Epidemiology Research Laboratory, Nemours Children’s Clinic, PO Box 269, Wilmington, DE 19899, USA;

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Crohn’s disease (CD) and ulcerative colitis (UC) are the two main clinical subtypes of inflammatory bowel disease (IBD), a common complex disease with a frequency in Western populations of about 1 in 1000.1 A strong genetic susceptibility to IBD is supported by several epidemiological studies,2 and the existence of both specific and common susceptibility genes for CD and UC has been postulated.3

Several candidate loci for IBD have been identified following whole genome scans in different populations (reviewed in Bonen & Cho4). Among these, a locus in the pericentromeric region of chromosome 16 denoted IBD15 was found consistently in linkage to CD in several independent studies4 and in a large collaborative study by the IBD International Genetics Consortium.6 Most of these studies, with few exceptions,7 reported negative or non-significant linkage of the same locus to UC. Allelic variants of single nucleotide polymorphisms (SNPs) in the CARD15 gene, located in the IBD1 region, have since been demonstrated to confer susceptibility to CD, but not to UC in several populations8–10 (also reviewed in Bonen & Cho4).

In a previous study, we reported positive non-parametric linkage (NPL) scores in the IBD1 region in both our CD and UC families,11 with the highest scores occurring at markers D16S419 and D16S514, respectively. Marker D16S419 is located approximately 5 cM away from CARD15, while D16S514 is located almost 20 cM away on chromosome 16q. To follow up on these results, we typed 10 additional microsatellite markers in the chromosome 16 region of positive linkage in a total of 90 Italian IBD families, and repeated the linkage analysis after excluding 26 families with previously reported CARD15 SNP susceptibility alleles. The observation of a broad region of positive NPL scores in our UC families …

View Full Text