Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome

Molecular Autism
Agnese Di NapoliBhismadev Chakrabarti

Abstract

Autism Spectrum Conditions (ASC) are neurodevelopmental conditions characterized by difficulties in communication and social interaction, alongside unusually repetitive behaviours and narrow interests. Asperger Syndrome (AS) is one subgroup of ASC and differs from classic autism in that in AS there is no language or general cognitive delay. Genetic, epigenetic and environmental factors are implicated in ASC and genes involved in neural connectivity and neurodevelopment are good candidates for studying the susceptibility to ASC. The aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2) gene encodes a transcription factor involved in neurodevelopmental processes, neuronal connectivity and cellular responses to hypoxia. A mutation in this gene has been identified in individuals with ASC and single nucleotide polymorphisms (SNPs) have been nominally associated with AS and autistic traits in previous studies. In this study, we tested 34 SNPs in ARNT2 for association with AS in 118 cases and 412 controls of Caucasian origin. P values were adjusted for multiple comparisons, and linkage disequilibrium (LD) among the SNPs analysed was calculated in our sample. Finally, SNP annotation allowed functional and structural analyses of the ...Continue Reading

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Citations

Jun 19, 2016·Neuroscience and Biobehavioral Reviews·Joon Yong An, Charles Claudianos
Mar 27, 2015·Journal of Applied Research in Intellectual Disabilities : JARID·Karola DillenburgerMickey Keenan
Sep 20, 2020·Human Genomics·Laurie-Anne Sapey-TriomphePatrick Edery
Dec 3, 2016·Frontiers in Psychiatry·Takashi X FujisawaKazuyuki Shinohara
Oct 12, 2021·Frontiers in Human Neuroscience·Per A Alm

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Methods Mentioned

BETA
Genotyping

Software Mentioned

SNPSpD
HapMap genome browser
UCSC genome browser
HaploReg
HapMap
Plink

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