Publisher
University of Tennessee at Chattanooga
Place of Publication
Chattanooga (Tenn.)
Abstract
The α1-Antitrypsin (AT) functions as the primary serum inhibitor of proteolytic enzymes, including neutrophil elastase. The presence of these abnormal alleles disrupts the normal functioning of α1-Antitrypsin (AT), leading to Alpha-1 Antitrypsin Deficiency (AATD). Homozygotes for type Z experience a substantial reduction in serum AT concentration, increasing the risk of pulmonary emphysema or hepatic cirrhosis. Homozygous S alleles and heterozygotes of type SZ exhibit a less severe reduction in serum AT concentration. Clinicians suggest that even though the reduction is less severe, it may still lead to Mild AAT Deficiency.
The primary objective of this study was to enhance our understanding of the frequency of the Z and S alleles, enabling accurate estimates of the prevalence and count of PiZZ and PiSS genotypes within the state of Tennessee, USA. We present the analysis of data collected from the Tennessee population and screened following ATS guidelines. We study the prevalence of homozygote (ZZ) AAT, heterozygote AAT deficiency, and the relationship to lung function, and potential risk of Chronic Obstructive pulmonary Disease (COPD) in hospital admission, readmission and all-cause mortality.
The findings presented here may serve as a valuable resource for healthcare professionals, researchers, and policymakers involved in respiratory health and genetic disorders.
Document Type
abstracts (summaries)
Language
English
Rights
http://rightsstatements.org/vocab/InC/1.0/
License
http://creativecommons.org/licenses/by/4.0/
Recommended Citation
OPOKU, FOSTER and Ma, Ziwei, "Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency: A Study on Hardy-Weinberg Equilibrium". ReSEARCH Dialogues Conference proceedings. https://scholar.utc.edu/research-dialogues/2024/Proceedings/3.
Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency: A Study on Hardy-Weinberg Equilibrium
The α1-Antitrypsin (AT) functions as the primary serum inhibitor of proteolytic enzymes, including neutrophil elastase. The presence of these abnormal alleles disrupts the normal functioning of α1-Antitrypsin (AT), leading to Alpha-1 Antitrypsin Deficiency (AATD). Homozygotes for type Z experience a substantial reduction in serum AT concentration, increasing the risk of pulmonary emphysema or hepatic cirrhosis. Homozygous S alleles and heterozygotes of type SZ exhibit a less severe reduction in serum AT concentration. Clinicians suggest that even though the reduction is less severe, it may still lead to Mild AAT Deficiency.
The primary objective of this study was to enhance our understanding of the frequency of the Z and S alleles, enabling accurate estimates of the prevalence and count of PiZZ and PiSS genotypes within the state of Tennessee, USA. We present the analysis of data collected from the Tennessee population and screened following ATS guidelines. We study the prevalence of homozygote (ZZ) AAT, heterozygote AAT deficiency, and the relationship to lung function, and potential risk of Chronic Obstructive pulmonary Disease (COPD) in hospital admission, readmission and all-cause mortality.
The findings presented here may serve as a valuable resource for healthcare professionals, researchers, and policymakers involved in respiratory health and genetic disorders.