Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection

Alpha-1 antitrypsin deficiency (AATD), a relatively common autosomal recessive genetic disorder, is underdiagnosed in symptomatic individuals. We sought to compare the risk of liver transplantation associated with hepatitis C infection with AATD heterozygotes and homozygotes and determine if SERPINA...

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Veröffentlicht in:	PloS one Jg. 18; H. 8; S. e0286469
Hauptverfasser:	Schuler, Bryce A., Bastarache, Lisa, Wang, Janey, He, Jing, Van Driest, Sara L., Denny, Joshua C.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States Public Library of Science 31.08.2023 Public Library of Science (PLoS)
Schlagworte:	Alcohol Alleles alpha 1-Antitrypsin - genetics Alpha 1-antitrypsin deficiency alpha 1-Antitrypsin Deficiency - diagnosis alpha 1-Antitrypsin Deficiency - genetics Biobanks Biology and Life Sciences Care and treatment Chronic obstructive pulmonary disease Codes Counties Deoxyribonucleic acid Diagnosis DNA Electronic health records Electronic medical records Evaluation Gene-Environment Interaction Genealogy Genetic disorders Genetic screening Genetic testing Genetics, Population Genotype & phenotype Genotype-environment interactions Genotypes Health risk assessment Health risks Hepacivirus - genetics Hepatitis Hepatitis C Hepatitis C - genetics Hepatitis C virus Hereditary diseases Heterozygotes Homozygotes Human subjects Humans Infections Liver Liver diseases Liver transplantation Liver transplants Medicine and health sciences Population genetics Retrospective Studies Risk factors Transplantation Transplants United States
ISSN:	1932-6203, 1932-6203
Online-Zugang:	Volltext
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