Department of Medicine, Division Cardiology, Krannert Institute of Cardiology, Indiana University, 1800 North Capitol, Room E300C, Indianapolis, Indiana 46202, USA.
Muscle Nerve. 2011 May;43(5):648-51. doi: 10.1002/mus.21934.
An association is observed between the severity of myotonic dystrophy type 1 (DM1) and the genetic abnormality of cytosine-thymine-guanine (CTG) repeat expansion. It is unknown whether an association exists between survival and CTG repeat expansion.
In an adult 406-patient DM1 cohort, the phenotype, including survival age, was evaluated in relation to CTG repeat expansion.
At study entry, age was 42 ± 12 (range 18-78) years, with a CTG repeat length of 629 ± 386 (range 54-1965). An inverse correlation was observed between CTG repeat length and the age at onset and younger DM1 phenotype. Over a follow-up of 9.2 ± 3.1 years, 118 (29.1%) patients died, including 60 of neuromuscular respiratory failure, 41 of cardiac causes, and 17 of non-neuromuscular, non-cardiac causes. There was an inverse relationship between all-cause survival and CTG length (relative risk 5.4 per log repeat, 95% confidence interval 2.9-10.2, P < 0.001).
The data demonstrate a genotype-mortality association in DM1.
在 1 型肌强直性营养不良（DM1）患者中，观察到肌营养不良严重程度与胞嘧啶-胸腺嘧啶-鸟嘌呤（CTG）重复扩展的遗传异常之间存在关联。尚不清楚生存与 CTG 重复扩展之间是否存在关联。
在一项包含 406 名成年 DM1 患者的队列研究中，评估了 CTG 重复扩展与表型（包括生存年龄）之间的关系。
在研究开始时，年龄为 42 ± 12 岁（范围 18-78 岁），CTG 重复长度为 629 ± 386 个（范围 54-1965 个）。CTG 重复长度与发病年龄和年轻的 DM1 表型呈负相关。在 9.2 ± 3.1 年的随访中，有 118 例（29.1%）患者死亡，包括 60 例因神经肌肉呼吸衰竭，41 例因心脏原因，17 例因非神经肌肉、非心脏原因。全因生存率与 CTG 长度呈负相关（每对数重复的相对风险为 5.4，95%置信区间为 2.9-10.2，P<0.001）。
数据表明 DM1 中存在基因型-死亡率关联。
