rs2143340
This is a regulatory region variant variant in the TDP2 gene.
▶Research that mentions this SNP (1)
▶Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319AssociationN=291Jillian M. Couto et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This family-based association study identifies SNP markers in KIAA0319 and VMP/NRSN1 genes associated with reading disability, with the strongest finding for rs6935076 in KIAA0319 (χ² = 6.025, P = 0.014). Using chromatin immunoprecipitation (ChIP-chip) to map regulatory elements, the authors identified acetylated histone H3 marks at a 2.7 kb region spanning the 5' untranslated region and intron 1 of KIAA0319, which overlaps with multiple previously and newly identified associated markers. Integration of genetic and epigenomic data narrows the candidate region for reading disability risk variants on chromosome 6p.
About TDP2
This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]
View all TDP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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