Genetic polymorphisms

The functional polymorphisms -429T>C and -374T>A of the RAGE gene promoter are not associated with gestational diabetes in Euro-Brazilians

I. C. R. Santos, Daga, D. R., Frigeri, H. R., Réa, R. R., Almeida, A. C. R., Souza, E. M., Pedrosa, F. O., Fadel-Picheth, C. M. T., and Picheth, G., The functional polymorphisms -429T>C and -374T>A of the RAGE gene promoter are not associated with gestational diabetes in Euro-Brazilians, vol. 9. pp. 1130-1135, 2010.

The receptor for advanced glycation end products (RAGE or AGER) is a multiligand member of the immunoglobulin superfamily. RAGE is expressed in several tissues, including human myometrium, chorionic villi and placenta. Advanced glycation end products are the best studied ligands of RAGE; they have pro-inflammatory actions in human gestational tissues, increasing oxidative stress and the release of cytokines and prostaglandins.

Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population

L. Dong, Mao, M., Luo, R., Tong, Y., and Yu, D., Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population, vol. 10, pp. 2569-2577, 2011.

Infantile spasms are a severe epileptic encephalopathy with a variety of etiologies that occur in infancy and early childhood. Subjects with infantile spasms are at a higher risk for evolving into intractable epileptic spasms, tending to be refractory to conventional antiepileptic drugs. Genetic polymorphisms of the P-glycoprotein-encoding gene ABCB1 are suspected to be associated with pharmacoresistance phenotypes in epilepsy patients.

Genetic polymorphisms in TLR4, CR1 and Duffy genes are not associated with malaria resistance in patients from Baixo Amazonas region, Brazil

S. C. Soares, Abé-Sandes, K., Filho, V. B. Nascimento, Nunes, F. M. F., and Silva, Jr., W. A., Genetic polymorphisms in TLR4, CR1 and Duffy genes are not associated with malaria resistance in patients from Baixo Amazonas region, Brazil, vol. 7, pp. 1011-1019, 2008.

The main purpose of this research was to analyze the relation of the genetic polymorphisms frequently expressed by antigen-presenting cells, erythrocytes and malaria susceptibility/resistance with the human malaria infection cases. The sample used consisted of 23 Plasmodium vivax (Pv)- and P. falciparum (Pf)-infected patients, and 21 healthy individuals as a control group, from the Baixo Amazonas population in Pará, Brazil.

The mutation G298A®Ala100Thr on th coding sequence of the Duffy antigen/chemokine receptor gene in non-caucasian Brazilians

A. Cristina Estalote, Proto-Siqueira, R., Da Silva, Jr., W. Araújo, Zago, M. Antonio, and Palatnik, M., The mutation G298A®Ala100Thr on th coding sequence of the Duffy antigen/chemokine receptor gene in non-caucasian Brazilians, vol. 4, pp. 166-173, 2005.

Ala100Thr has been suggested to be a Caucasian genetic marker on the FY*B allele. As the Brazilian population has arisen from miscegenation among Portuguese, Africans, and Indians, this mutation could possibly be found in Euro- and Afro-Brazilians, or in Brazilian Indians. Fifty-three related individuals and a random sample of 100 subjects from the Brazilian population were investigated using the polymerase chain reaction and four restriction fragment length polymorphisms.

Personalized diagnosis by cached solutions with hypertension as a study model

P. C. Carvalho, Freitas, S. S., Lima, A. B., Barros, M., Bittencourt, I., Degrave, W., Cordovil, I., Fonseca, R., Carvalho, M. G. C., Neto, R. S. Moura, and Cabello, P. H., Personalized diagnosis by cached solutions with hypertension as a study model, vol. 5, pp. 856-867, 2006.

Statistical modeling of links between genetic profiles with environmental and clinical data to aid in medical diagnosis is a challenge. Here, we present a computational approach for rapidly selecting important clinical data to assist in medical decisions based on personalized genetic profiles. What could take hours or days of computing is available on-the-fly, making this strategy feasible to implement as a routine without demanding great computing power.

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