LETTER TO JMG

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

V Annese¹, A Latiano¹, O Palmieri^1,2, H-H Li³, P Forabosco⁴, A Ferraris⁵, A Andriulli¹, M Vecchi⁶, S Ardizzone⁷, M Cottone⁸, B Dallapiccola⁵, E Rappaport⁹, P Fortina², M Devoto^3,10

¹ Divisione di Gastroenterologia, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
² Center for Translational Medicine, Department of Medicine, Thomas Jefferson University, Philadelphia, PA, USA
³ Department of Biomedical Research, Nemours Children’s Clinic, Wilmington, DE, USA
⁴ Istituto di Genetica delle Popolazioni, CNR, Alghero (SS), Italy
⁵ IRCCS CSS San Giovanni Rotondo and CSS-Mendel, Roma and Dipartimento di Medicina Sperimentale e Patologia, Universita’ La Sapienza, Roma, Italy
⁶ IRCCS Ospedale Maggiore, Milano, Italy
⁷ Ospedale Sacco, Milano, Italy
⁸ Ospedale Cervello, Palermo, Italy
⁹ Joseph Stokes Jr Research Institute, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
¹⁰ Dipartimento di Oncologia, Biologia e Genetica, Universita’ di Genova, Italy

Correspondence to:
Correspondence to:
Dr M Devoto
Genetic Epidemiology Research Laboratory, Nemours Children’s Clinic, PO Box 269, Wilmington, DE 19899, USA; mdevoto@nemours.org

Keywords: CARD15 SNPs; inflammatory bowel disease; linkage analysis

Abbreviations: CD, Crohn’s disease; IBD, inflammatory bowel disease; NPL, non-parametric linkage; SNP, single nucleotide polymorphism; UC, ulcerative colitis

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]

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