Publication Date:
2014
abstract:
Intellectual disability (ID) is frequently due to the synergic action of environmental and genetic factors. Here we
describe the particular case of three Gipsy Italian siblings, fifteen, twelve and eleven years old, with ID. Genetic
analysis stated that the parents are not consanguineous, and no human leukocyte antigen (HLA) alleles related to
autism and/or other neurological disorders are present in the 3 ID patients. Instead, a positive association of ID with
brain derived neurotrophic factor (BDNF) (Val66Met and C270T), IL6 (-174) and interleukin 1receptor antagonist
(IL1RA) mspa 11100 polymorphisms was demonstrated in these three ID patients. Moreover, serum levels of
interleukin 1beta (IL1?), interleukin 6 (IL6) were significantly different between the three patients and controls.
Iris type:
01.01 Articolo in rivista
Keywords:
Intellectual disability; Polymorphism; Cytokine; HLA; Neurotrophic factor
List of contributors:
DEL BEATO, Tiziana; DI LORETO, Silvia; Sebastiani, Pierluigi; Aureli, Anna
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