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SHR Neuro Cancer Cardio Lipid

Hohoff, C; Ponath, G; Freitag, CM; Kästner, F; Krakowitzky, P; Domschke, K; Koelkebeck, K; Kipp, F; von Eiff, C; Deckert, J; Rothermundt, M.
Risk variants in the S100B gene predict elevated S100B serum concentrations in healthy individuals.
Am J Med Genet B Neuropsychiatr Genet. 2010; 153B(1): 291-297.
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Authors Med Uni Graz:
Krakowitzky Petra

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Several lines of evidence suggest an important role of the S100B protein and its coding gene in different neuropathological and psychiatric disorders like dementia, bipolar affective disorders and schizophrenia. To clarify whether a direct link exists between gene and gene product, that is, whether S100B variants directly modulate S100B serum concentration, 196 healthy individuals were assessed for S100B serum concentrations and genotyped for five potentially functional S100B SNPs. Functional variants of the serotonergic genes 5-HT1A and 5-HTT possibly modulating S100B serum levels were also studied. Further, publicly available human postmortem gene expression data were re-analyzed to elucidate the impact of S100B, 5-HT1A and 5-HTT SNPs on frontal cortex S100B mRNA expression. Several S100B SNPs, particularly rs9722, and the S100B haplotype T-G-G-A (including rs2186358-rs11542311-rs2300403-rs9722) were associated with elevated S100B serum concentrations (Bonferroni corrected P < 0.05). Of these, rs11542311 was also associated with S100B mRNA expression directly (Bonferroni corrected P = 0.05) and within haplotype G-A-T-C (rs11542311-rs2839356-rs9984765-rs881827; P = 0.004), again with the G-allele increasing S100B expression. Our results suggest an important role of S100B SNPs on S100B serum concentrations and S100B mRNA expression. It hereby links recent evidence for both, the impact of S100B gene variation on various neurological or psychiatric disorders like dementia, bipolar affective disorders and schizophrenia and the strong relation between S100B serum levels and these disorders. (c) 2009 Wiley-Liss, Inc.
Find related publications in this database (using NLM MeSH Indexing)
Humans -
Nerve Growth Factors - blood Nerve Growth Factors - genetics
Polymorphism, Single Nucleotide -
RNA, Messenger - genetics
Receptor, Serotonin, 5-HT1A - genetics
Risk Factors -
S100 Calcium Binding Protein beta Subunit -
S100 Proteins - blood S100 Proteins - genetics
Serotonin Plasma Membrane Transport Proteins - genetics

Find related publications in this database (Keywords)
S100B calcium binding protein B
functional polymorphisms
mRNA expression
postmortem frontal cortex
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