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

被引:68
作者
Annese, V
Latiano, A
Bovio, P
Forabosco, P
Piepoli, A
Lombardi, G
Andreoli, A
Astegiano, M
Gionchetti, P
Riegler, G
Sturniolo, GC
Clementi, M
Rappaport, E
Fortina, P
Devoto, M
Gasparini, P
Andriulli, A
机构
[1] IRCCS, Osped CSS, Div Gastroenterol, I-71013 San Giovanni Rotondo, Italy
[2] Univ Genoa, Fac Med & Chirurg, Dipartimento Oncol Clin & Sperimentale, Genoa, Italy
[3] Osped N Regina Margherita, Div Gastroenterol, Rome, Italy
[4] Osped Molinette, Dipartimento Gastroenterol, Turin, Italy
[5] Policlin S Orsola, Ist Clin Med, Bologna, Italy
[6] Univ Naples 2, Cattedra Gastroenterol, Naples, Italy
[7] Univ Padua, Cattedra Gastroenterol, I-35100 Padua, Italy
[8] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA
[9] Childrens Hosp, Philadelphia, PA 19104 USA
[10] IRCCS, Osped CSS, Serv Genet Med, Foggia, Italy
关键词
inflammatory bowel disease; ulcerative colitis; Crohn's disease; linkage analysis; genetic predisposition;
D O I
10.1038/sj.ejhg.5200328
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:567 / 573
页数:7
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