Arrieta Bolanos, ER; Madrigal, JA; Shaw, B; (2013) Novel alleles of the Transforming Growth Factor β-1 promoter and exon 1. Presented at: 27th annual EFI European Immunogenetics and Histocompatibility Conference, Maastricht.

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Abstract

Transforming growth factor β-1, encoded by the TGFB1 gene, is a cytokine that plays a central role in many physiologic and pathogenic processes, having pleiotropic effects on cell proliferation, differentiation, migration and survival. Regulatory activity for this gene has been demonstrated for approximately 3.0 kb between positions -2,665 and +423 from its translational start site. This region includes two promoter sites, two negative regulatory elements and two enhancers, in addition to part of the protein’s signal peptide. An important amount of polymorphism has been reported for this gene, including 17 promoter and exon 1 alleles defined on the basis or 18 polymorphisms . Polymorphism in TGFB1 has been associated to differential levels of expression of this cytokine and to genetic risk in cancer and hematopoietic stem cell (HSCT) and organ transplantation. In this report, we extend this list by presenting novel alleles formed by new polymorphic positions and a new combination of the previously described polymorphisms. These novel alleles have been found during the typing of a cohort of unrelated haematopoietic stem cell transplantation patient-donor pairs, and of healthy volunteer donors.

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