Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder

Autism Research : Official Journal of the International Society for Autism Research
Thorsten M KranzA G Chiocchetti

Abstract

Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR = 1.48, CI95 = 1.06-2.08, P = 0.022) for the minor A allele of variant rs237889G>A in sample 1 (N = 135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N = 542 families), this finding was confirmed (OR = 1.12; CI95 = 1.01-1.24, random effects P = 0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview - revised (ADI-R), with highly significant increases i...Continue Reading

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Citations

Aug 9, 2016·Social Cognitive and Affective Neuroscience·Regan M BernhardJoshua D Greene
Mar 1, 2018·Frontiers in Molecular Neuroscience·Ilaria CataldoGianluca Esposito
Oct 14, 2017·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Christian MontagKeith M Kendrick
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Nov 18, 2017·Journal of Neural Transmission·Andreas G ChiocchettiChristine M Freitag
Oct 4, 2020·Brain Sciences·Jinhee LeePaolo Fusar-Poli
Sep 25, 2017·Psychiatry and Clinical Neurosciences·Mary M Y Waye, Ho Yu Cheng

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