Genotype Differences Associated with Demographic, Health, and Behavioral Characteristics of Individuals with Alpha-1 Antitrypsin Deficiency

February 05, 2019

 

Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant disorder that results from mutations of the SERPINA1 gene, and typically is associated with the increased risk of early onset pulmonary emphysema in adults, liver disease in children as well as adults and – more rarely –  necrotizing panniculitis. A team of investigators at the University of Kentucky College of Public Health and the University of Colorado Denver recently published findings from their study aimed at examining differences in demographic, health, and behavioral characteristics in individuals with ZZ and SZ genotypes of alpha-1 antitrypsin deficiency (AATD) within AlphaNet’s Disease Management and Prevention Program (ADMAPP).

 

Ms. Radmila Choate, MPH, a research analyst in the UK College of Public Health Department of Preventive Medicine and Environmental Health and a doctoral candidate in Epidemiology and Biostatistics, is the first and corresponding author of "Comparing Patients with ZZ Versus SZ Alpha-1 Antitrypsin Deficiency: Findings from AlphaNet’s Disease Management Program". Co-authors are: Dr. David M. Mannino, UK College of Public Health Department of Preventive Medicine and Environmental Health; Dr. Kristen E. Holm, University of Colorado Denver School of Public Health Department of Community and Behavioral Health; and Dr. Robert A. Sandhaus, University of Colorado Denver School of Medicine Division of Pulmonary Sciences and Critical Care Medicine. The article appears in the current issue of Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation, where it is also featured in an editorial by Dr. James K. Stoller of the Cleveland Clinic.

 

The investigators analyzed self-reported data from 3535 patients with AATD, including 3,031 patients with ZZ, ZNull, and NullNull genotypes and 504 with the SZ genotype. The average age of the cohort was 56.3, and the majority of respondents were male (51.2 percent), white (98.2 percent) and married (65.2 percent).

 

The study found that SZs reported having more frequent exacerbations and hospitalizations than ZZs. A higher proportion of SZs than ZZs had been diagnosed with high blood pressure, diabetes, congestive heart failure, and other comorbid conditions. SZs were more likely than ZZs to report “poor” health. More than a third (38.4 percent) of SZs did not exercise compared to 27.1 percent of ZZs. A greater proportion of SZs compared to ZZs view themselves as being overweight or “out of shape”, and a higher proportion of SZs than ZZs reported any history of smoking or current smoking.

 

Overall the investigators found that in patients with AATD and lung disease participating in a disease management program, a higher proportion of SZs than ZZs report exacerbations, comorbidities, and overall poor health, as well as unhealthy behaviors such as lack of exercise and current smoking. The authors conclude that future work should consider the extent to which genotype-specific health promotion interventions would be useful.

 

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The University of Kentucky College of Public Health is a catalyst of positive change for population health, with a mission to develop health champions, conduct multidisciplinary and applied research, and collaborate with partners to improve health in Kentucky and beyond.