AI Article Synopsis

  • 22q11.2 deletion syndrome is a neurogenetic disorder involving the loss of over 40 genes, and around 40% of those affected may develop schizophrenia, with unclear mechanisms behind this link.
  • The study hypothesized that variations in specific genes within the deleted region could influence brain volume and predict psychosis risk in youth with the syndrome, involving 56 participants.
  • Findings indicated a significant association between a specific SNP (rs701428) in the RTN4R gene and changes in gray matter in parts of the brain linked to visual processing, suggesting RTN4R may be a key gene related to psychosis susceptibility in these individuals.

Article Abstract

22q11.2 deletion syndrome is a neurogenetic disorder resulting in the deletion of over 40 genes. Up to 40% of individuals with 22q11.2DS develop schizophrenia, though little is known about the underlying mechanisms. We hypothesized that allelic variation in functional polymorphisms in seven genes unique to the deleted region would affect lobar brain volumes, which would predict risk for psychosis in youth with 22q11.2DS. Participants included 56 individuals (30 males) with 22q11.2DS. Anatomic MR images were collected and processed using Freesurfer. Participants were genotyped for 10 SNPs in the COMT, DGCR8, GNB1L, PIK4CA, PRODH, RTN4R, and ZDHHC8 genes. All subjects were assessed for ultra high risk symptoms of psychosis. Allelic variation of the rs701428 SNP of RTN4R was significantly associated with volumetric differences in gray matter of the lingual gyrus and cuneus of the occipital lobe. Moreover, occipital gray matter volumes were robustly associated with ultra high risk symptoms of psychosis in the presence of the G allele of rs701428. Our results suggest that RTN4R, a relatively under-studied gene at the 22q11 locus, constitutes a susceptibility gene for psychosis in individuals with this syndrome through its alteration of the architecture of the brain. © 2017 Wiley Periodicals, Inc.

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Source
http://dx.doi.org/10.1002/ajmg.b.32515DOI Listing

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