Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection - Schuler, Bryce A.; Bastarache, Lisa; Wang, Janey; He, Jing; Van Driest, Sara L.; Denny, Joshua C. (PloS one, 2023)
Keywords: 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