Epidemiological studies suggest that inherited factors influence susceptibility to inflammatory bowel disease (IBD), and some candidate loci have been described, In order to verify whether the same loci are responsible for predisposition to IBD in our population, we carried out a linkage study in a series of 58 Italian families with Crohn's disease (CD) and ulcerative colitis (UC), HLA-DQ alleles, motilin gene, and 34 microsatellites flanking the previously described loci on chromosomes 3, 6, 7, 12 and 16 were analysed by non-parametric linkage analysis in 16 and 23 families with CD and UC, respectively, and in 19 families where CD and UC coexisted. Non parametric analysis using GENEHUNTER yielded maximum NPL scores for marker D16S408 in all LED families combined (2.71, P = 0.003), for marker D16S419 in CD (1.97, P = 0.026) and for marker D16S514 in UC families (2.44, P = 0.007), These markers map in the previously described IBD1 region, No significant linkage was found for markers of chromosomes 3, 6, 7 and 12. The present study performed in a Southern European population provides additional support for the conclusion that the IBD1 locus has a clear role in the genetic susceptibility to IBD.

Genetic analysis in Italian families with inflammatory bowel disease support linkage the IBD1 locus-A GISC study

STURNIOLO, GIACOMO;CLEMENTI, MAURIZIO
1999

Abstract

Epidemiological studies suggest that inherited factors influence susceptibility to inflammatory bowel disease (IBD), and some candidate loci have been described, In order to verify whether the same loci are responsible for predisposition to IBD in our population, we carried out a linkage study in a series of 58 Italian families with Crohn's disease (CD) and ulcerative colitis (UC), HLA-DQ alleles, motilin gene, and 34 microsatellites flanking the previously described loci on chromosomes 3, 6, 7, 12 and 16 were analysed by non-parametric linkage analysis in 16 and 23 families with CD and UC, respectively, and in 19 families where CD and UC coexisted. Non parametric analysis using GENEHUNTER yielded maximum NPL scores for marker D16S408 in all LED families combined (2.71, P = 0.003), for marker D16S419 in CD (1.97, P = 0.026) and for marker D16S514 in UC families (2.44, P = 0.007), These markers map in the previously described IBD1 region, No significant linkage was found for markers of chromosomes 3, 6, 7 and 12. The present study performed in a Southern European population provides additional support for the conclusion that the IBD1 locus has a clear role in the genetic susceptibility to IBD.
1999
STAMPA
Inglese
7(5)
567
573
7
STOCKTON PRESS, HOUNDMILLS, BASINGSTOKE RG21 6XS, HAMPSHIRE, ENGLAND
Internazionale
Esperti anonimi
Molecular Biology & Genetics considers all aspects of basic and applied genetics, including molecular genetics, prokaryotic and eukaryotic gene expression, mechanisms of mutagenesis, structure, function and regulation of genetic material. Also included are resources concerned with clinical genetics, patterns of inheritance, genetic cause, and screening and treatment of disease. Resources dealing specifically with developmentally regulated gene expression, or with signal transduction pathways that modulate gene expression at the cellular level are excluded and are covered in the Cell and Developmental Biology category.
inflammatory bowel disease, ulcerative colitis, Crohn's disease, linkage analysis, genetic predisposition, CROHNS-DISEASE, SUSCEPTIBILITY LOCUS, ULCERATIVE-COLITIS, CHROMOSOME-16, COMPLEX, HLA
none
Annese, V; Latiano, A; Bovio, P; Forabosco, P; Piepoli, A; Lombardi, G; Andreoli, A; Astegiano, M; Gionchetti, P; Riegler, G; Sturniolo, Giacomo; Clem...espandi
01 CONTRIBUTO IN RIVISTA::01.01 - Articolo in rivista
info:eu-repo/semantics/article
12
262
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/2473909
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