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Influence of genetic polymorphisms on the interleukins concentrations and in the risk for congenital heart defects in individuals with Down Syndrome

Grant number: 14/26218-5
Support type:Regular Research Grants
Duration: April 01, 2015 - March 31, 2017
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Erika Cristina Pavarino
Grantee:Erika Cristina Pavarino
Home Institution: Faculdade de Medicina de São José do Rio Preto (FAMERP). Secretaria de Desenvolvimento Econômico (São Paulo - Estado). São José do Rio Preto , SP, Brazil
Assoc. researchers: Joice Matos Biselli Périco

Abstract

The phenotype of Down syndrome (DS), more frequent human chromosomal disorder, is complex and variable among individuals, and may include multiple dysmorphic features, immunologic abnormalities, congenital heart defects, learning disabilities, neurological disorders, among others. Studies show that some genes involved in the immune system have altered expression in individuals with DS, however, the etiological basis of immunological alterations present in individuals with DS is unclear. In addition, changes in the folate metabolic pathway have been associated with the presence of congenital heart defects, which are the main cause of death in the first years of life in individuals with DS. This project aims to evaluate the frequencies of IL-10 rs 1800896, IL-10 rs 1800871, IL-10 rs 1800872, IL-6 rs 1800795, IL-6 rs 1800796 and IL-6 rs 1800797 polymorphisms in individuals with DS and in a control group without trisomy 21; analyze the impact of the genotypes studied in serum levels of interleukins; investigate the association between MTHFR rs4846049, MTHFR rs4846048 and hsa-miR-149 rs2292832 polymorphisms and the presence of congenital heart defects in individuals with DS; and investigate the impact of these polymorphisms in the expression of mRNA and protein of the MTHFR gene in these individuals. We expect to identify differences between groups that may explain the higher frequency of immunological changes in individuals with the syndrome and contribute to the understanding of the mechanisms involved in modulating the risk for congenital heart defects. (AU)

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
MATTOS, MARLON FRAGA; BISELLI-CHICOTE, PATRICIA MATOS; BISELLI, JOICE MATOS; DA SILVA ASSEMBLEIA, THIAGO LUIS; GOLONI-BERTOLLO, ENY MARIA; PAVARINO, ERIKA CRISTINA. Interleukin 6 and 10 Serum Levels and Genetic Polymorphisms in Children with Down Syndrome. Mediators of Inflammation, 2018. Web of Science Citations: 1.
MATTOS, M. F.; UBACK, L.; BISELLI-CHICOTE, P. M.; BISELLI, J. M.; GOLONI-BERTOLLO, E. M.; PAVARINO, E. C. Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study. Genetics and Molecular Research, v. 16, n. 3 AUG 18 2017. Web of Science Citations: 0.

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