rs28365054
This is a variant in the TDP1 gene that changes a alanine to an threonine.
▶ClinVar annotation
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 (SCAN1); not specified
View on ClinVar →▶Research that mentions this SNP (2)
▶Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.ReviewMarta Sánchez Delgado et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This review examines the genetic and epigenetic basis of Tourette Syndrome (TS), a neurodevelopmental disorder with high heritability (0.45-0.77). The paper reviews candidate gene associations including variants in SLITRK1 (rs9593835, rs9546538, rs9531520), DRD2/ANKK1 (rs1800497), ADORA1/ADORA2A (rs2228079, rs5751876), and other dopaminergic genes, along with a large GWAS in 1285 cases and 4964 controls highlighting rs7868992 in COL27A1. The review proposes that epigenetic mechanisms (DNA methylation, histone modifications, non-coding RNAs) may link genetic susceptibility with environmental factors in TS pathogenesis.
▶Association of Tyrosyl‐DNA Phosphodiesterase 1 Polymorphism With Tourette Syndrome in Taiwanese PatientsAssociationN=228Bor‐Tsang Wu et al.(2013)· Journal of Clinical Laboratory Analysis
A case-control study of 122 Taiwanese children with Tourette syndrome (TS) and 106 normal controls found that the TDP1 gene SNP rs28365054 (c.400G>A, Ala134Thr) was significantly associated with TS. The AG genotype was a risk factor with an odds ratio of 2.26 (95% CI 1.08-4.72, P=0.0402), suggesting that variants in the TDP1 DNA repair gene may contribute to TS susceptibility.
About TDP1
The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]
View all TDP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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