rs4818917
This is a intron variant variant in the TRPM2 gene.
▶Research that mentions this SNP (1)
▶Candidate gene analysis of 21q22: Support for S100B as a susceptibility gene for bipolar affective disorder with psychosisAssociationN=125Roche S. et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A candidate gene association study of 125 bipolar affective disorder (BPAD) type I trios identified significant associations between S100B SNPs rs2839350 (P=0.022) and rs3788266 (P=0.031) and BPAD. When analysis was restricted to cases with psychotic features (86 trios), associations strengthened for rs2839350 (P=0.016) and rs3788266 (P=0.009). The study suggests that S100B variants may predispose to psychotic subtypes of BPAD, potentially through altered gene expression, while family-based analysis of the nearby TRPM2 gene showed no evidence for association.
About TRPM2
The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]
View all TRPM2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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