Duchenne muscular dystrophy (DMD) is an inheritable disease that presents itself in diminished respiratory function and is the main contributor to mortality in these patients. The main respiratory concerns in DMD are reduced diaphragmatic function, reduced mucocilliary clearance, increased muscle proteolysis, and increased inflammation. The Gly16 variant of the β2‐adrenergic receptor (ADRB2) has been identified as providing a protective effect for respiratory weakness. The aim of this study was to identify the influence of ADRB2 genotype on the age of use for nocturnal ventilatory assistance in DMD. Data from CINRG‐DNHS including 175 DMD patients (ages 3–25 years) with up to 9.7 years follow‐up were analyzed focusing on ADRB2 functional variants. We performed Cox proportional hazard and Kaplan‐Meier time to event analyses for the age of nocturnal ventilation use. There were no differences between genotype groups in age, height, weight, corticosteroid use, number of ambulatory patients, or age of loss of ambulation. The genotype groups differed significantly in the age at which nocturnal ventilation use was prescribed with the Gly16 demonstrating a 2.77‐fold increased risk of using nocturnal ventilation at any given age. These data suggest that genetic variations in the ADRB2 gene may influence the age of nocturnal ventilation use in DMD. Specifically, the Gly16 polymorphism of the ADRB2 may have a deleterious effect on age of nocturnal ventilation use in DMD. This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.

The purpose of this study was to determine the effects of ADRB2 genotypes on muscle function (absolute power and relative power) in healthy subjects. We performed genotyping of the ADRB2 (amino acid 16) and high-intensity, steady-state exercise on 77 healthy subjects (AA = 18, AG = 25, GG = 34). There were no differences between genotype groups in age, height, weight, or BMI (age = 28.9 ± 5.7yrs, 27.9 ± 5.7yrs, 29.2 ± 5.9yrs, height = 170.7 ± 8.6cm, 174.9 ± 8.7cm, 173.4 ± 9.6cm, weight = 68.5 ± 13.0kg, 75.0 ± 12.9kg, 74.4 ± 12.9kg, and BMI = 23.4 ± 3.9, 24.4 ± 2.9, 24.7 ± 3.4, for AA, AG, and GG, respectively). The genotype groups differed significantly in watts, and watts/VO2 with heavy exercise (watts = 186.3± 54.6, 237.8 ± 54.4, 219.4 ± 79.5, watts/VO2 = 0.08 ± 0.006, 0.09 ± 0.005, 0.08 ± 0.006). There was a trend towards significance (p=0.058) for watts/kg (2.7 ± 0.4, 3.2 ± 0.5, 2.9 ± 0.8, for AA, AG, and GG, respectively). These data suggest that genetic variation of the ADRB2 may influence relative strength in healthy subjects and may become an important genetic determinant of muscular strength and functional capacity in patients with diseases that result in a loss of muscle strength.

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Aims: Hypertension is the strongest modifiable risk factor for cardiovascular disease, affecting 80 million individuals in the US and responsible for $360,000 deaths, at total annual costs of $93.5 billion. Antihypertension therapies guided by single genotypes are clinically more effective and may avert more adverse events than the standard of care of layering anti-hypertensive drug therapies, thus potentially decreasing costs. This study aimed to determine the economic benefits of the implementation of multi-gene panel guided therapies for hypertension from the payer perspective within a 3-year time horizon. Materials and methods: A simulation analysis was conducted for a panel of 10 million insured patients categorized clinically as untreated, treated but uncontrolled, and treated and controlled over a 3-year treatment period. Inputs included research data; empirical data from a 11-gene panel with known functional, heart, blood vessel, and kidney genotypes; and therapy efficacy and safety estimates from literature. Cost estimates were categorized as related to genetic testing, evaluation and management, medication, or adverse events.