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Genotypes and haplotypes in the 3' untranslated region of the HLA-G gene and their association with clinical outcome of hematopoietic stem cell transplantation for beta-thalassemia.
Sizzano, F; Testi, M; Zito, L; Crocchiolo, R; Troiano, M; Mazzi, B; Turchiano, G; Torchio, M; Pultrone, C; Gregori, S; Chiesa, R; Gaziev, J; Sodani, P; Marktel, S; Amoroso, A; Roncarolo, M G; Lucarelli, G; Ciceri, F; Andreani, M; Fleischhauer, K.
Afiliación
  • Sizzano F; Unit of Molecular and Functional Immunogenetics, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy. sizzano.federico@hsr.it
Tissue Antigens ; 79(5): 326-32, 2012 May.
Article en En | MEDLINE | ID: mdl-22489942
Polymorphisms in the 3' untranslated region (3'UTR) of HLA-G, an important player in immunological tolerance, could be involved in post-transcriptional expression control, and their association with different clinical immune-related conditions including autoimmunity and transplantation is of mounting interest. Most studies have focused on a 14 base pair (bp) insertion/deletion (ins/del), while additional single-nucleotide polymorphisms (SNPs) in the HLA-G 3'UTR have been described but not extensively investigated for their clinical relevance. Here we have comparatively studied the association between 3'UTR haplotypes of HLA-G, or the 14 bp ins/del, with clinical outcome of HLA-identical sibling hematopoietic stem cell transplantation (HSCT) in 147 Middle Eastern beta-thalassemia patients. Sequence based typing of 3'UTR HLA-G polymorphisms in the patients and in 102 healthy Italian blood donors showed strong linkage disequilibrium between the 14 bp ins/del and five 3'UTR SNPs, which together could be arranged into eight distinct haplotypes based on expectation-maximization studies, with four predominant haplotypes (UTRs1-4). After HSCT, we found a moderate though not significant association between the presence of UTR-2 in double dose and protection from acute graft versus host disease (hazard ratio (HR) 0.45, 95% confidence intervals (CI): 0.14-1.45; P = 0.18), an effect that was also seen when the corresponding 14 bp ins/ins genotype was considered alone (HR 0.42, 95% CI: 0.16-1.06; P = 0.07). No association was found with rejection or survival. Taken together, our data show that there is no apparent added value of considering entire 3'UTR HLA-G haplotypes for risk prediction after allogeneic HSCT for beta-thalassemia.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Talasemia beta / Trasplante de Células Madre Hematopoyéticas / Regiones no Traducidas 3' / Antígenos HLA-G / Enfermedad Injerto contra Huésped Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Tissue Antigens Año: 2012 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Talasemia beta / Trasplante de Células Madre Hematopoyéticas / Regiones no Traducidas 3' / Antígenos HLA-G / Enfermedad Injerto contra Huésped Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Tissue Antigens Año: 2012 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido