rs1059004

This is a 3 prime utr variant variant in the OLIG2 gene.

Research that mentions this SNP (2)

Risk variant of oligodendrocyte lineage transcription factor 2 is associated with reduced white matter integrity
AssociationN=78Diana P. Prata et al.(2013)· Human Brain Mapping

This study examined the effect of OLIG2 rs1059004 on white matter integrity in 78 healthy subjects using diffusion tensor imaging. The risk allele (A) was associated with reduced fractional anisotropy in the corona radiata bilaterally, with an 8.75% reduction on the right and 6.37% on the left in AA homozygotes compared to CC homozygotes, consistent with OLIG2's role in oligodendrocyte development and schizophrenia susceptibility.

Traits studied:Fractional anisotropySchizophrenia susceptibilityWhite matter integrity
Positive association between OLIG2 and schizophrenia in the Chinese Han population
AssociationN=617Ke Huang et al.(2008)· Human Genetics

Case-control association study of three OLIG2 variants in 329 Chinese Han schizophrenia patients and 288 controls. SNP rs762178 showed significant association with schizophrenia (P=0.015 after Bonferroni correction, OR=1.73, 95% CI: 1.18-2.55), and the A-T haplotype formed by rs762178 and rs1059004 was also significant (P=0.009). Results suggest OLIG2 variants confer schizophrenia susceptibility in the Chinese population.

Traits studied:Schizophrenia

About OLIG2

This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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