Evaluation of the impact of genetic polymorphisms of interleukin 10 in individuals with Down Syndrome

• Grant number: 14/19494-6
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: November 01, 2014
• End date: October 31, 2016
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Erika Cristina Pavarino
• Grantee: Thiago Luis da Silva Assembleia
• Host 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

Abstract

Down Syndrome (DS) is the most common human chromosomal disorder, affecting approximately 1 in 660 live births and about 95% of cases are attributed to free trisomy 21 resulting from meiotic nondisjunction. Individuals with this syndrome have several clinical features including immunological abnormalities that result in increased frequency of infections and autoimmune diseases. Studies show that some genes involved in the immune system have altered expression in individuals with DS, however, the etiological basis of immunological abnormalities present in these individuals is not fully understood. Thus, the objective of this project is to evaluate the frequencies of -592A> T, -1082G> A and -819T> C polymorphisms in the promoter region of the IL-10 gene in individuals with DS and a control group without trisomy 21 to identify differences between groups that may clarify the high frequency of immune alterations in individuals with the syndrome.