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 (IL1β), interleukin 6 (IL6) were significantly different between the three patients and controls.
Highlights
Several genes are involved in Intellectual disability (ID) etiology but the mechanisms by which these candidates regulate cognitive function remain poorly understood [1,2]
Using the Human Inflammatory Cytokines Multi-Analyte ELISArrayTM Kits (Qiagen), we demonstrated that interleukin 6 (IL6) and IL1β levels were significantly higher in ID Gipsy siblings than in controls (Figure 2B)
human leukocyte antigen (HLA) class I (A, B, and Cw) and class II (DRB1) sequence-based typing (SBT) [18] investigation showed that: a) parents of the 3 ID children are not consanguineous; b) the father has some peculiar HLA alleles (HLA-DRB1*15:02, HLA-B*52:01 and Cw*12:02) of Hungarian and Spanish Gypsies [19]; and c) no HLA alleles related to autism and/or other neurological disorders are present in the 3 ID patients
Summary
Several genes are involved in ID etiology but the mechanisms by which these candidates regulate cognitive function remain poorly understood [1,2]. Several polymorphisms of BDNF gene have been described and in our previous study a positive association between ID and two BDNF SNPs was demonstrated (Val66Met and C270T) [12].
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