© 2002 Journal of Medical Genetics
LETTER TO JMG
Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease patients
1 Divisione di Gastroenterologia, Ospedale CSS-IRCCS, San Giovanni Rotondo, Foggia, Italy
2 Department of Research, AI duPont Hospital for Children, Wilmington, DE, USA
3 Istituto di Genetica Molecolare, CNR, Alghero (SS), Italy
4 Dipartimento di Oncologia, Biologia, e Genetica, Universita' di Genova, Genova, Italy
Correspondence to:
Correspondence to:
Dr M Devoto, AI duPont Hospital for Children, Department of Research, AR 210, PO Box 269, Wilmington, DE 19899, USA;
mdevoto@nemours.org
Keywords: Crohn's disease; ulcerative colitis; MLH1 gene
Abbreviations: CD, Crohn's disease; UC, ulcerative colitis; IBD, inflammatory bowel disease; HNPCC, hereditary non-polyposis colon cancer; SNP, single nucleotide polymorphism
Crohn's disease (CD) and ulcerative colitis (UC), the two clinical entities comprising idiopathic inflammatory bowel disease (IBD), are complex disorders with a proven genetic predisposition.1 Several systematic genome wide searches for susceptibility genes in patients with IBD have reported linkage to specific regions of the genome.28 In particular, many replication studies, including a large international cooperative study9 and our own,10 have confirmed linkage to a locus on chromosome 16, named IBD1.2 Association of susceptibility to CD with allelic variants of NOD2, located in 16q12, has been recently reported.1113
One of the worst complications of IBD, especially in UC, is the increased risk of colorectal cancer.14 Pokorny et al15 studied three polymorphisms located inside or near the MLH1 gene, one of the DNA mismatch repair genes implicated in hereditary non-polyposis colon cancer (HNPCC),16 in a cohort of IBD patients. They found that specific MLH1 haplotypes were associated with the
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