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 2023-08, Vol.18 (8), p.e0286469-e0286469
Hauptverfasser:	Schuler, Bryce A, Bastarache, Lisa, Wang, Janey, He, Jing, Van Driest, Sara L, Denny, Joshua C
Format:	Artikel
Sprache:	eng
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 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
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