Sickle cell disease

Genomic ancestry evaluated by ancestry-informative markers in patients with sickle cell disease

A. F. Nascimento, Oliveira, J. S., Junior, J. C. Silva, Barbosa, A. A. L., Nascimento, A. F., Oliveira, J. S., Junior, J. C. Silva, Barbosa, A. A. L., Nascimento, A. F., Oliveira, J. S., Junior, J. C. Silva, and Barbosa, A. A. L., Genomic ancestry evaluated by ancestry-informative markers in patients with sickle cell disease, vol. 15, p. -, 2016.

The βs mutation is responsible for the most aggressive form of sickle cell disease, has a predominantly African origin, and arrived in Brazil through the slave trade. However, the Brazilian population is highly miscegenated, underscoring the importance of ancestry-informative markers (AIMs) for the identification of the genetic structure of a population.

Frequencies of -308G/A (TNFA) and -509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil

L. S. Torres, E. Júnior, B., Silva, D. G., Lobo, C. L., Ruiz, M. A., and Bonini-Domingos, C. R., Frequencies of -308G/A (TNFA) and -509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil, vol. 12, pp. 6762-6766, 2013.

Sickle cell anemia is an affection that causes chronic inflammation, with consequences for vaso-occlusion, oxidative stress and cytokine production. Genetic polymorphisms in markers involved in this process can modulate the inflammatory response, including polymorphisms -308G/A of TNFA (tumor necrosis factor alpha) and -509C/T of TGFB1 (transforming growth factor beta 1), reported to increase TNF-α and TGF-β1 production, respectively.

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