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ObjectiveOxytocin (OT) has been implicated to play an important role in autism spectrum disorders (ASD) etiology. We aimed to find out the differences in plasma OT levels between children with autism and healthy children, the associations of OT levels with particular autism symptoms and the associations of particular parental autistic traits with their ASD children OT levels.MethodsWe included 19 boys with autism and 44 healthy age-matched boys. OT levels were analyzed by ELISA method. Children with autism were scored by Childhood Autism Rating Scale and Autism Diagnostic Interview (ADI), adjusted research version. Autism Spectrum Quotient (AQ), Systemizing Quotient (SQ) and Empathizing Quotient were completed by parents of children with autism.ResultsChildren with autism had significantly lower plasma OT levels than controls. OT levels positively correlated with ADI Reciprocal Interaction and Communication scores. AQ and SQ of fathers positively correlated with children plasma OT level.ConclusionOur results support the hypothesis of OT deficiency in autism. The "paradoxical" associations of OT levels and social skills in children with autism indicate disturbances at various levels of OT system. We first reported associations of OT levels in children with autism and behavioral measures in fathers indicating that OT abnormalities stay between parental autistic traits and autism symptoms in their children.

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Background:The plasminogen system is central in cell migration and is thus involved in many patho/physiological processes. Results: M6P-IGF2R is a regulatory factor in plasminogen-associated complexes and mediates plasminogen internalization. Conclusion: The uptake of plasminogen by M6P-IGF2R might be an important pathway to control plasminogen activation in cells. Significance: M6P-IGF2R restricts plasmin activity and its loss might lead to rampant fibrinolysis.

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Mathematical ability is heritable, but few studies have directly investigated its molecular genetic basis. Here we aimed to identify specific genetic contributions to variation in mathematical ability. We carried out a genome wide association scan using pooled DNA in two groups of U.K. samples, based on end of secondary/high school national academic exam achievement: high (n = 419) versus low (n = 183) mathematical ability while controlling for their verbal ability. Significant differences in allele frequencies between these groups were searched for in 906,600 SNPs using the Affymetrix GeneChip Human Mapping version 6.0 array. After meeting a threshold of p<1.5×10−5, 12 SNPs from the pooled association analysis were individually genotyped in 542 of the participants and analyzed to validate the initial associations (lowest p-value 1.14 ×10−6). In this analysis, one of the SNPs (rs789859) showed significant association after Bonferroni correction, and four (rs10873824, rs4144887, rs12130910 rs2809115) were nominally significant (lowest p-value 3.278 × 10−4). Three of the SNPs of interest are located within, or near to, known genes (FAM43A, SFT2D1, C14orf64). The SNP that showed the strongest association, rs789859, is located in a region on chromosome 3q29 that has been previously linked to learning difficulties and autism. rs789859 lies 1.3 kbp downstream of LSG1, and 700 bp upstream of FAM43A, mapping within the potential promoter/regulatory region of the latter. To our knowledge, this is only the second study to investigate the association of genetic variants with mathematical ability, and it highlights a number of interesting markers for future study.

Prepubertal testosterone levels are lower in intellectually gifted boys. The aim of this pilot study was to analyze potential genetic factors related to testosterone metabolism in control and gifted boys. Intellectually gifted (IQ>130; n = 95) and control (n = 67) boys were genotyped. Polymorphisms of interests were chosen in genes including androgen and estrogen receptors, 5-alpha reductase, aromatase and sex hormone binding globulin. Significant differences between control and gifted boys in genotype distributions were found for ESR2 (rs928554) and SHBG (rs1799941). A significantly lower number of CAG repeats in the AR gene were found in gifted boys. Our results support the role of genetic factors related to testosterone metabolism in intellectual giftedness. Increased androgen signaling might explain previous results of lower testosterone levels in intellectually gifted boys and add to the understanding of variability in cognitive abilities.

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