Abstract

Rs9722 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.

Highlights

  • S100B is a calcium-binding protein involved in the regulation of energy metabolism in brain cells [34] and the proliferation and differentiation of neurons and glia [1]

  • We investigated the association between SNPs of the S100B gene and spatial ability in both schizophrenia patients and controls

  • For the mental rotation task, we found that the A allele of rs9722, the G allele of rs1051169 and the haplotype composed of these two alleles were associated with elevated mean RTs among patients

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Summary

Introduction

S100B is a calcium-binding protein involved in the regulation of energy metabolism in brain cells [34] and the proliferation and differentiation of neurons and glia [1]. More importantly for this study, Liu and colleagues [14], using 384 schizophrenia patients and 401 controls of Han Chinese origin, found that schizophrenia was significantly associated with haplotypes composed of rs1051169 and rs9722 (two SNPs in the S100B gene) and marginally associated with rs1051169 alone Both of these SNPs have been found to affect S100B gene expression [12]. Wiltfang et al [32] reported an association between serum S100B levels of liver cirrhosis patients and their performance on the block design test These results suggest that spatial ability may mediate the association between S100B gene polymorphisms and schizophrenia

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