Risk variants in the S100B gene, associated with elevated S100B levels, are also associated with visuospatial disability of schizophrenia

Abstract

a b s t r a c tRs9722 and rs1051169 have been reported as affecting the levels of S100B in the serum or the brain, and haplotypes containing these two SNPs have been associated with schizophrenia. The current study investigated the role of the S100B gene in an endophenotype of schizophrenia-spatial disability. 304 schizophrenia patients and 196 healthy controls were given a block design task and a mental rotation task. Results showed that the two aforementioned SNPs and related haplotypes were associated with the spatial disability of schizophrenia patients. Specifically, risk factors for the elevated S100B levels, including the A allele of rs9722, the G allele of rs1051169, and the AG haplotype, were associated with a poorer performance on both tests of spatial ability, especially the mental rotation task. These results implicate a role for S100B gene polymorphisms in the cognitive functions of schizophrenia patients and encourage further investigation into spatial disability as an endophenotype of schizophrenia.

S100B gene polymorphisms predict prefrontal spatial function in both schizophrenia patients and healthy individuals

“…rs9722 (at 3′-UTR) and rs1051169 (a synonymous SNP at exon 2). Our study (Zhai et al, 2011) further found a correlation between these two SNPs and schizophrenia patients' visual spatial disability. It should be noted that both of these SNPs appear to be functional.…”

“…Moreover, S100B overexpression mice (Roder et al, 1996) also showed impaired spatial exploratory pattern in T-maze, reflecting impaired working memory. In our previous study (Zhai et al, 2011), we extended the link between the S100B gene and spatial abilities to humans. We found that three SNPs in the S100B gene (the same ones included in the present study) were associated with performance on spatial ability tasks (mental rotation and block design).…”

“…Among them, 304 patients and 196 healthy controls were included in our previous study (Zhai et al, 2011). The remaining subjects were newly added.…”

“…Details of the genotyping for all SNPs (rs2839357, rs1051169, rs9722, rs2839349, rs3788266 and rs881827) can be found in our previous study (Zhai et al, 2011). Briefly, all the SNPs were genotyped using Taqman allele-specific assays on the 7900HT Fast RealTime PCR System (Applied Biosystems, Foster City, CA, U.S.A.).…”

“…In addition to rs9722 and rs1051169 mentioned above, we also included rs2839357 (at intron 1). The GG genotype of this SNP showed a marginally significant association with schizophrenia patients' poorer performance on a mental rotation task (a visual spatial cognitive task that has a component of working memory) in our previous study (Zhai et al, 2011). To cover the full length of the S100B gene, three additional SNPs, viz.…”