Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.
Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan.
Amyotroph Lateral Scler Frontotemporal Degener. 2021 Aug;22(5-6):442-447. doi: 10.1080/21678421.2020.1867182. Epub 2020 Dec 30.
Intermediate-length CAG repeats in 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 (), another disease-associated gene for inherited ataxia, in ALS remains elusive. To assess the association between 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 allele with a repeat number equal or greater than 44 (44 and 46). The patient with the 46 trinucleotide repeats also had a 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; = 0.04). Our findings suggest that intermediate-length CAG/CAA repeat expansions in may associate with ALS risk.
在 TATA 框结合蛋白基因（）中，存在与中间长度 CAG 重复一样的三核苷酸重复扩展，这是另一个与遗传性共济失调相关的疾病相关基因。然而，其在肌萎缩侧索硬化症（ALS）中的作用仍不清楚。为了评估三核苷酸重复扩展与 ALS 之间的关联，我们在台湾人群中调查了 325 名无关 ALS 患者和 1500 名对照者的重复长度。患者和对照组中最常见的重复大小均为 36。患者的重复长度范围为 29 至 46 个重复，对照组的重复长度范围为 27 至 43 个重复。有两名 ALS 患者携带重复数等于或大于 44 的等位基因（44 和 46）。携带 46 个三核苷酸重复的患者还存在 GGGGCC 六核苷酸重复扩展。携带 CAG/CAA 重复≥44 的个体患 ALS 的比值比为 23.2（95%置信区间：1.11-484.24；P=0.04）。我们的研究结果表明，在 中存在中间长度的 CAG/CAA 重复扩展可能与 ALS 风险相关。
