The chromosome region 2q33, which contains the cytotoxic T lymphocyte antigen-4 (CTLA-4) gene, has been reported in linkage and association with celiac disease (CD). In the present work we have tested the association between the polymorphism of the CTLA-4 exon I and susceptibility to CD in an Italian population, using case-control and family-based approaches. The +49 A/G dimorphism was analyzed in 86 patients, 144 ethnically matched controls, and 113 nuclear families by the polymerase chain reaction-restriction fragment length polymorphism method. A significantly higher frequency of the CTLA-4 +49A allele was observed in patients when compared with controls (p = 3 X 10(-2)). The segregation analysis in the 113 trios showed a preferential transmission of the A allele to the probands (chi(TDT)(2) = 4.85). When the patients were stratified according to the presence/absence of the high-risk human leukocyte antigen-DQ2 heterodimer, a significant difference was observed between the two groups, that is, the A allele was increased in the subjects without the DQ2 heterodimer (88.9% vs 73.5%, P = 8.3 X 10(-3)). The A allele was transmitted from heterozygous parents to eight of nine DQ2-dimer-negative patients. These data support CTLA-4 as a predisposing gene for CD in an Italian population with a prominent role in patients not carrying the high-risk human leukocyte antigen-DQ2 molecules

CTL-4+49 A/G dimorphism in Italian patients with coeliac disease / Mora, B; Bonamico, M.; Indovina, P; Megiorni, F; Ferri, M; Carbone, Mc; Cipolletta, E; Mazzilli, Mc. - In: HUMAN IMMUNOLOGY. - ISSN 0198-8859. - STAMPA. - 64:(2003), pp. 297-301. [10.1016/S0198-8859(02)00782-6]

CTL-4+49 A/G dimorphism in Italian patients with coeliac disease.

M. BONAMICO;MEGIORNI F;MAZZILLI MC
2003

Abstract

The chromosome region 2q33, which contains the cytotoxic T lymphocyte antigen-4 (CTLA-4) gene, has been reported in linkage and association with celiac disease (CD). In the present work we have tested the association between the polymorphism of the CTLA-4 exon I and susceptibility to CD in an Italian population, using case-control and family-based approaches. The +49 A/G dimorphism was analyzed in 86 patients, 144 ethnically matched controls, and 113 nuclear families by the polymerase chain reaction-restriction fragment length polymorphism method. A significantly higher frequency of the CTLA-4 +49A allele was observed in patients when compared with controls (p = 3 X 10(-2)). The segregation analysis in the 113 trios showed a preferential transmission of the A allele to the probands (chi(TDT)(2) = 4.85). When the patients were stratified according to the presence/absence of the high-risk human leukocyte antigen-DQ2 heterodimer, a significant difference was observed between the two groups, that is, the A allele was increased in the subjects without the DQ2 heterodimer (88.9% vs 73.5%, P = 8.3 X 10(-3)). The A allele was transmitted from heterozygous parents to eight of nine DQ2-dimer-negative patients. These data support CTLA-4 as a predisposing gene for CD in an Italian population with a prominent role in patients not carrying the high-risk human leukocyte antigen-DQ2 molecules
2003
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01 Pubblicazione su rivista::01a Articolo in rivista
CTL-4+49 A/G dimorphism in Italian patients with coeliac disease / Mora, B; Bonamico, M.; Indovina, P; Megiorni, F; Ferri, M; Carbone, Mc; Cipolletta, E; Mazzilli, Mc. - In: HUMAN IMMUNOLOGY. - ISSN 0198-8859. - STAMPA. - 64:(2003), pp. 297-301. [10.1016/S0198-8859(02)00782-6]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/98279
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