association of aryl hydrocarbon receptor-related gene variants with the severity of autism spectrum disorders

association of aryl hydrocarbon receptor-related gene variants with the severity of autism spectrum disorders

;Takashi X. Fujisawa;Takashi X. Fujisawa;Shota Nishitani;Ryoichiro Iwanaga;Junko Matsuzaki;Chisato Kawasaki;Mamoru Tochigi;Tsukasa Sasaki;Nobumasa Kato;Kazuyuki Shinohara
journal of experimental psychology general 2016 Vol. 7 pp. -
200
fujisawa2016frontiersassociation

Abstract

Exposure to environmental chemicals, such as dioxin, is known to have adverse effects on the homeostasis of gonadal steroids, thereby potentially altering the sexual differentiation of the brain to express autistic traits. Dioxin-like chemicals act on the aryl hydrocarbon receptor (AhR), polymorphisms and mutations of AhR-related gene may exert pathological influences on sexual differentiation of the brain, causing autistic traits. To ascertain the relationship between AhR-related gene polymorphisms and autism susceptibility, we identified genotypes of them in patients and controls and determined whether there are different gene and genotype distributions between both groups. In addition, to clarify the relationships between the polymorphisms and the severity of autism, we compared the two genotypes of AhR-related genes (rs2066853, rs2228099) with the severity of autistic symptoms. Although no statistically significant difference was found between autism spectrum disorder (ASD) patients and control individuals for the genotypic distribution of any of the polymorphisms studied herein, a significant difference in the total score of severity was observed in rs2228099 polymorphism, suggesting that the polymorphism modifies the severity of ASD symptoms but not ASD susceptibility. Moreover, we found that a significant difference in the social communication score of severity was observed. These results suggest that the rs2228099 polymorphism is possibly associated with the severity of social communication impairment among the diverse ASD symptoms.

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211807
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10.3389/fpsyt.2016.00184
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