Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome

• Published in: Journal of vascular surgery Vol. 68; no. 1; pp. 225 - 233.e5
• Main Authors: De Cario, Rosina, Sticchi, Elena, Lucarini, Laura, Attanasio, Monica, Nistri, Stefano, Marcucci, Rossella, Pepe, Guglielmina, Giusti, Betti
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.07.2018
• Subjects: Adolescent; Adult; Aged; Chi-Square Distribution; DNA Mutational Analysis; Female; Fibrillin-1 - genetics; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Italy; Linear Models; Logistic Models; Male; Marfan Syndrome - diagnosis; Marfan Syndrome - genetics; Middle Aged; Mutation; Odds Ratio; Phenotype; Polymorphism, Single Nucleotide; Protective Factors; Protein-Serine-Threonine Kinases - genetics; Receptors, Transforming Growth Factor beta - genetics; Risk Factors; Young Adult

Genetic variants in transforming growth factor beta (TGF-β) receptors type 1 (TGFBR1) and type 2 (TGFBR2) genes have been associated with different hereditary connective tissue disorders sharing thoracic aortic aneurysm and dissection (TAA/D). Mutations in both TGFBR1/2 genes have been described in...