Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population

Abstract Background TOR1A plays a very important role in early-onset isolated dystonia. Studying the association between the common variants of this gene and dystonia can help us understand the connection between TOR1A mutations and this disease. Methods The TOR1A exon 5 was sequenced in 223 isolated dystonia patients and 210 age-adjusted controls. Patients and controls all came from Southwest China. Results The following two common variants were found in the 3′-UTR of TOR1A : NM_000113.2:c.*414delG (rs35153737) and NM_000113.2:c.*824delG (rs3842225). The rs35153737 variant showed a statistically significant association with dystonia using the allele model ( P  = 0.035) and the dominant genetic model ( P  = 0.018); however, no association between rs3842225 and dystonia was found. Conclusion Our study suggests that there is an association between rs35153737 and dystonia in a southwestern Chinese population, and it may be caused by high linkage disequilibrium between this deletion and potential pathogenic variants in TOR1A .