Article
Alpha-1 antitrypsin Pi*SZ genotype: estimated prevalence and number of SZ subjects worldwide.
International journal of chronic obstructive pulmonary disease - 1 Jan 2017
Blanco Ignacio, Bueno Patricia, Diego Isidro, Pérez-Holanda Sergio, Lara Beatriz, Casas-Maldonado Francisco, Esquinas Cristina, Miravitlles Marc
Abstract excerpt
The alpha-1 antitrypsin (AAT) haplotype Pi*S, when inherited along with the Pi*Z haplotype to form a Pi*SZ genotype, can be associated with pulmonary emphysema in regular smokers, and less frequently with liver disease, panniculitis, and systemic vasculitis in a small percentage of people, but this connection is less well established. Since the detection of cases can allow the application of preventive measures...
Topics
- Gene Frequency
- Genetic Predisposition to Disease
- Global Health
- Haplotypes
- Heterozygote
- Humans
- Liver Diseases
- Molecular Epidemiology
- Multivariate Analysis
- Panniculitis
- Phenotype
- Prevalence
- Pulmonary Emphysema