Investigating <i>TBP</i> CAG/CAA trinucleotide repeat expansions in a Taiwanese cohort with ALS

  • Kang Yang Jih (Creator)
  • K. P. Lin (Creator)
  • Pei Chien Tsai (Creator)
  • Bing-Wen Soong (Veterans General Hospital-Taipei) (Creator)
  • Yi Chu Liao (Creator)
  • Yi Chung Lee (Creator)



Intermediate-length CAG repeats in <i>ATXN2</i> have been well recognized as a genetic risk factor for amyotrophic lateral sclerosis (ALS). However, the role of similar trinucleotide repeat expansions in the TATA-box binding protein gene (<i>TBP</i>), another disease-associated gene for inherited ataxia, in ALS remains elusive. To assess the association between <i>TBP</i> trinucleotide repeat expansions and ALS, we investigated the repeat lengths in 325 unrelated ALS patients and 1500 controls in the Taiwanese population. The most common size of repeats in the patients and controls were both 36. The repeat lengths ranged from 29 to 46 repeats in the ALS patients and 27 to 43 repeats in the controls. Two ALS patients carried a <i>TBP</i> allele with a repeat number equal or greater than 44 (44 and 46). The patient with the 46 trinucleotide repeats also had a <i>C9ORF72</i> GGGGCC hexanucleotide repeat expansion. The odds ratio of an individual carrying the CAG/CAA repeats ≥ 44 to have ALS is 23.2 (95% confidence interval: 1.11–484.24; <i>p</i> = 0.04). Our findings suggest that intermediate-length CAG/CAA repeat expansions in <i>TBP</i> may associate with ALS risk.
Date made available2020
PublisherTaylor & Francis

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