Research Article
Interleukin 6 and 10 Serum Levels and Genetic Polymorphisms in
Children with Down Syndrome
Marlon Fraga Mattos,
1
Patrícia Matos Biselli-Chicote ,
1
Joice Matos Biselli,
2
Thiago Luís da Silva Assembleia,
1
Eny Maria Goloni-Bertollo ,
1
and Érika Cristina Pavarino
1
1
Unidade de Pesquisa em Genética e Biologia Molecular, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto,
SP, Brazil
2
Instituto de Biociências Letras e Ciências Exatas, Universidade Estadual Paulista, São José do Rio Preto, SP, Brazil
Correspondence should be addressed to Érika Cristina Pavarino; erika@famerp.br
Received 15 May 2018; Accepted 29 July 2018; Published 16 August 2018
Academic Editor: Calogero Caruso
Copyright © 2018 Marlon Fraga Mattos et al. This is an open access article distributed under the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Immunological impairment is a condition that is often observed in individuals with Down syndrome (DS). The immune response is
modulated by pro- and anti-inflammatory cytokines whose expressions could be influenced by genetic polymorphisms. The present
study was aimed at evaluating the frequencies of -174G>C, -572G>C, and -597G>A polymorphisms in the interleukin 6 (IL-6) gene
and -592C>A, -1082A>G, and -819C>T polymorphisms in the IL-10 gene and the IL-6 and IL-10 serum levels in healthy
individuals with and without DS. The authors also aimed to investigate the impact of the genotypes on the interleukin
concentrations. The genetic polymorphisms were investigated in 200 DS individuals and 200 controls without DS. The serum
measurement of IL-6 and IL-10 was performed in a subgroup (54 cases and 54 controls) by enzyme-linked immunosorbent
assay (ELISA). The frequencies of the polymorphisms and haplotypes evaluated were not different between individuals with and
without DS. IL-10 concentration was higher in DS children but was not influenced by IL-10 gene polymorphisms. IL-6
genotypes had no influence on IL-6 serum levels. The IL-10 serum levels are increased in DS individuals, but IL-10
polymorphisms are not the main factors that influence the IL-10 expression in DS.
1. Introduction
Immunological impairment is a condition often observed
in individuals with Down syndrome (DS), which presents
an increased susceptibility to bacterial and viral infections
and a high frequency of hematologic and autoimmune
disorders [1–3]. The immune response is modulated by
anti-inflammatory and proinflammatory cytokines, which
regulate T cell differentiation. Regulatory cytokines include
interleukins (IL), interferons (IFN), tumor necrosis factors
(TNF), and growth factors [4].
Interleukin 6 (IL-6) is a proinflammatory cytokine pro-
duced by leukocytes, adipocytes, endothelial cells, fibroblasts,
and myocytes. IL-6 induces the production of mediators for
the release of cytokines such as TNF and IL-1, which drive
the inflammatory reaction [5]. The immune system uses
anti-inflammatory mechanisms to prevent the exacerbation
of inflammatory processes caused by proinflammatory mole-
cules and avoid tissue damage and restore the homeostasis
[6]. IL-10 is an important immunoregulatory and anti-
inflammatory cytokine secreted by macrophages, monocytes,
dendritic cells, T helper 1 (Th1) and Th2 lymphocytes, B
lymphocytes, cytotoxic T cells, and mast cells [7]. IL-10
stimulates the activation, proliferation, and differentiation
of B cells [6] and participates in the control of the inflamma-
tory response [8]. An imbalance between pro- and anti-
inflammatory cytokines avoids the adequate function of the
immune system. In DS, alteration of cytokine levels has been
observed [9–15], and it can lead to immune deficiency.
The single-nucleotide polymorphisms within the pro-
moter region -597G>A, -572G>C, and -174G>C of the IL-6
gene and -1082G>A, -829C>T, and -592C>A of the IL-10
Hindawi
Mediators of Inflammation
Volume 2018, Article ID 6539548, 9 pages
https://doi.org/10.1155/2018/6539548