Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease resulting in severe respiratory derangements. As such, DMD patients are at a high risk of nocturnal hypoventilation, thereby requiring nocturnal ventilation (NV). To this end, NV is an important clinical milestone in the management of DMD. Emerging evidence suggests that ß2 adrenergic receptors (ADRB2) may play a role in determining respiratory function, whereby more functional ADRB2 genotype variants (e.g., Gly16) are associated with improved pulmonary function and respiratory muscle strength. These findings suggest that the more functional ADRB2 genotype may help to preserve respiratory function in patients with DMD. The purpose of this study was to identify the influence of ADRB2 genotype on the risk of NV use in DMD. Data from the CINRG Duchenne Natural History Study including 175 DMD patients (3–25 yrs) were analyzed focusing on ADRB2 genotype variants. Time-to-event analyses were used to examine differences in the age at prescription of full-time NV use between genotypes. There were no differences between genotype groups in age, height, weight, corticosteroid use, proportion of ambulatory patients, or age at loss of ambulation. DMD patients expressing the Gly16 polymorphism had a significantly (P < 0.05) lower mean age at NV prescription compared with those patients expressing the Arg16 polymorphism (21.80 ± 0.59 yrs. vs 25.91 ± 1.31 yrs., respectively). In addition, a covariate-adjusted Cox model revealed that the Gly16 variant group possessed a 6.52-fold higher risk of full-time NV use at any given age compared with the Arg16 polymorphism group. These data suggest that genetic variations in the ADRB2 gene may influence the age at which DMD patients are first prescribed NV, whereby patients with the Gly16 polymorphism are more likely to require NV assistance at an earlier age than their Arg16 counterparts.

中文翻译：

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β的影响₂对夜间通风的风险患者的杜兴肌营养不良肾上腺素受体基因型

杜兴氏肌营养不良症（DMD）是一种进行性神经肌肉疾病，会导致严重的呼吸道不适。因此，DMD患者夜间通气不足的风险很高，因此需要夜间通气（NV）。为此，NV是DMD管理中的重要临床里程碑。越来越多的证据表明，ß2肾上腺素能受体（ADRB2）可能在确定呼吸功能中起作用，因此，功能性更强的ADRB2基因型变异体（例如Gly16）与改善的肺功能和呼吸肌力量有关。这些发现表明，功能更强的ADRB2基因型可能有助于保持DMD患者的呼吸功能。本研究的目的是确定ADRB2基因型对DMD中NV使用风险的影响。来自CINRG Duchenne自然史研究的数据包括175位DMD患者（3至25岁）进行了分析，重点是ADRB2基因型变异。事件发生时间分析用于检查基因型之间全天NV使用处方的年龄差异。基因型各组之间的年龄，身高，体重，使用皮质类固醇激素，门诊病人的比例或运动能力丧失的年龄之间没有差异。表达Gly16多态性的DMD患者在NV处方下的平均年龄比表达Arg16多态性的患者低（P <0.05）（分别为21.80±0.59岁和25.91±1.31岁）。此外，经协变量调整的Cox模型显示，与Arg16多态性组相比，Gly16变异组在任何给定年龄的全日制NV使用风险高6.52倍。