Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.
作者： P. T. Goodbourn , J. M. Bosten , G. Bargary , R. E. Hogg , A. J. Lawrance-Owen
DOI: 10.1111/GBB.12096
关键词:
摘要: Deficits in sensitivity to visual stimuli of low spatial frequency and high temporal (so-called frequency-doubled gratings) have been demonstrated both schizophrenia autism spectrum disorder (ASD). Such basic perceptual functions are ideal candidates for molecular genetic study, because the underlying neural mechanisms well characterized; but they sometimes overlooked favor cognitive neurophysiological endophenotypes, which substrates often unknown. Here, we report a genome-wide association study endophenotype associated with psychological disorder. Sensitivity gratings was measured 1060 healthy young adults, analyzed genotype using linear regression at 642 758 single nucleotide polymorphism (SNP) markers. A significant (P = 7.9 × 10(-9) ) found SNP marker rs1797052, situated 5'-untranslated region PDZK1; each additional copy minor allele an increase equivalent more than half standard deviation. permutation procedure, accounts multiple testing, showed that α = 0.005 level. The on chromosome 1q21.1 surrounding PDZK1 is established susceptibility locus ASD, mirroring common two disorders. interacts N-methyl-d-aspartate receptors neuroligins, implicated etiologies ASD. These findings suggest abnormalities observed different disorders may be linked by elements.
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