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

被引：5

作者：

Annese, V

Latiano, A

Palmieri, O

Li, HH

Forabosco, P

Ferraris, A

Andriulli, A

Vecchi, M

Ardizzone, S

Cottone, M

Dallapiccola, B

Rappaport, E

Fortina, P

Devoto, M

机构：

[1] Nemours Childrens Clin, Dept Biomed Res, Genet Epidemiol Res Lab, Wilmington, DE 19899 USA

[2] IRCCS Casa Sollievo Sofferenza, Div Gastroenterol, San Giovanni Rotondo, FG, Italy

[3] Thomas Jefferson Univ, Dept Med, Ctr Translat Med, Philadelphia, PA 19107 USA

[4] CNR, Ist Genet Popolaz, Alghero, SS, Italy

[5] IRCCS CSS San Giovanni Rotondo, Rome, Italy

[6] CSS Mendel, Rome, Italy

[7] Univ Roma La Sapienza, Dipartimento Med Sperimentale & Patol, Rome, Italy

[8] IRCCS Osped Maggiore, Milan, Italy

[9] Osped L Sacco, Milan, Italy

[10] Osped Cervello, Palermo, Italy

[11] Childrens Hosp Philadelphia, Joseph Stokes Jr Res Inst, Philadelphia, PA 19104 USA

[12] Univ Genoa, Dipartimento Oncol Biol & Genet, Genoa, Italy

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 11期

关键词：

D O I：

10.1136/jmg.40.11.837

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：837 / 841

页数：5

共 22 条

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

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 .

EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (05) :567-573

[2] The genetics of inflammatory bowel disease [J].

Bonen, DK ;

Cho, JH .

GASTROENTEROLOGY, 2003, 124 (02) :521-536

[3] International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: Crohn disease and chromosome 16 [J].

Cavanaugh, J .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (05) :1165-1171

[4] Pyrosequencing™:: An accurate detection platform for single nucleotide polymorphisms [J].

Fakhrai-Rad, H ;

Pourmand, N ;

Ronaghi, M .

HUMAN MUTATION, 2002, 19 (05) :479-485

[5] Pyrosequencling for detection of mutations in the connexin 26 (GJB2) and mlitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss [J].

Ferraris, A ;

Rappaport, E ;

Santacroce, R ;

Pollak, E ;

Krantz, I ;

Toth, S ;

Lysholm, F ;

Margaglione, M ;

Restagno, G ;

Dallapiccola, B ;

Surrey, S ;

Fortina, P .

HUMAN MUTATION, 2002, 20 (04) :312-320

[6] Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis [J].

Forabosco, P ;

Collins, A ;

Latiano, A ;

Annese, V ;

Clementi, M ;

Andriulli, A ;

Fortina, P ;

Devoto, M ;

Morton, NE .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (11) :846-852

[7] Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p [J].

Hampe, J ;

Frenzel, H ;

Mirza, MM ;

Croucher, PJP ;

Cuthbert, A ;

Mascheretti, S ;

Huse, K ;

Platzer, M ;

Bridger, S ;

Meyer, B ;

Nürnberg, P ;

Stokkers, P ;

Krawczak, M ;

Mathew, CG ;

Curran, M ;

Schreiber, S .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (01) :321-326

[8] Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations [J].

Hampe, J ;

Cuthbert, A ;

Croucher, PJP ;

Mirza, MM ;

Mascheretti, S ;

Fisher, S ;

Frenzel, H ;

King, K ;

Hasselmeyer, A ;

MacPherson, AJS ;

Bridger, S ;

van Deventer, S ;

Forbes, A ;

Nikolaus, S ;

Lennard-Jones, JE ;

Foelsch, UR ;

Krawczak, M ;

Lewis, C ;

Schreiber, S ;

Mathew, CG .

LANCET, 2001, 357 (9272) :1925-1928

[9] The family based association test method: strategies for studying general genotype-phenotype associations (Reprinted from European Journal of Human Genetics, Vol 9 pgs 301-306, 2001) [J].

Horvath, Steve ;

Xu, Xin ;

Laird, Nan M. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 :S59-S62

[10] Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease [J].

Hugot, JP ;

Chamaillard, M ;

Zouali, H ;

Lesage, S ;

Cézard, JP ;

Belaiche, J ;

Almer, S ;

Tysk, C ;

O'Morain, CA ;

Gassull, M ;

Binder, V ;

Finkel, Y ;

Cortot, A ;

Modigliani, R ;

Laurent-Puig, P ;

Gower-Rousseau, C ;

Macry, J ;

Colombel, JF ;

Sahbatou, M ;

Thomas, G .

NATURE, 2001, 411 (6837) :599-603

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