{"id":"https://openalex.org/W3141752809","doi":"https://doi.org/10.1002/hep4.1718","title":"Heterozygosity of the Alpha 1\u2010Antitrypsin Pi*Z Allele and Risk of Liver Disease","display_name":"Heterozygosity of the Alpha 1\u2010Antitrypsin Pi*Z Allele and Risk of Liver Disease","publication_year":2021,"publication_date":"2021-04-03","ids":{"openalex":"https://openalex.org/W3141752809","doi":"https://doi.org/10.1002/hep4.1718","mag":"3141752809","pmid":"https://pubmed.ncbi.nlm.nih.gov/34430780","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8369947"},"language":"en","primary_location":{"id":"doi:10.1002/hep4.1718","doi":"https://doi.org/10.1002/hep4.1718","is_oa":true,"landing_page_url":"https://doi.org/10.1002/hep4.1718","pdf_url":null,"source":{"id":"https://openalex.org/S4210228550","display_name":"Hepatology Communications","issn_l":"2471-254X","issn":["2471-254X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hepatology Communications","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1002/hep4.1718","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5088815848","display_name":"Aaron Hakim","orcid":"https://orcid.org/0000-0002-9752-8826","observed_orcids":["https://orcid.org/0000-0002-9752-8826"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I1316535847","display_name":"Beth Israel Deaconess Medical Center","ror":"https://ror.org/04drvxt59","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316535847"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Aaron Hakim","raw_affiliation_strings":["Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","Department of Medicine,Beth Israel Deaconess Medical Center,Boston,MA,USA","Division of Gastroenterology and Hepatology,Beth Israel Deaconess Medical Center,Boston,MA,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Department of Medicine,Beth Israel Deaconess Medical Center,Boston,MA,USA","institution_ids":["https://openalex.org/I1316535847"]},{"raw_affiliation_string":"Division of Gastroenterology and Hepatology,Beth Israel Deaconess Medical Center,Boston,MA,USA","institution_ids":["https://openalex.org/I1316535847"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085242587","display_name":"Matthew R. Moll","orcid":"https://orcid.org/0000-0002-0683-0975","observed_orcids":["https://orcid.org/0000-0002-0683-0975"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew Moll","raw_affiliation_strings":["Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","Division of Pulmonary and Critical Care Medicine,Brigham and Women's Hospital,Boston,MA,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Division of Pulmonary and Critical Care Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029228127","display_name":"Dandi Qiao","orcid":"https://orcid.org/0000-0001-9450-205X","observed_orcids":["https://orcid.org/0000-0001-9450-205X"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dandi Qiao","raw_affiliation_strings":["Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102766810","display_name":"Jiangyuan Liu","orcid":"https://orcid.org/0000-0001-8467-857X","observed_orcids":["https://orcid.org/0000-0001-8467-857X"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jiangyuan Liu","raw_affiliation_strings":["Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008569720","display_name":"Jessica Ann Lasky-Su","orcid":"https://orcid.org/0000-0001-6236-4705","observed_orcids":["https://orcid.org/0000-0001-6236-4705"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jessica A. Lasky\u2010Su","raw_affiliation_strings":["Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035524361","display_name":"Edwin K. Silverman","orcid":"https://orcid.org/0000-0002-3641-3822","observed_orcids":["https://orcid.org/0000-0002-3641-3822"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Edwin K. Silverman","raw_affiliation_strings":["Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","Division of Pulmonary and Critical Care Medicine,Brigham and Women's Hospital,Boston,MA,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Division of Pulmonary and Critical Care Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080694500","display_name":"S\u00edlvia Vilarinho","orcid":"https://orcid.org/0000-0002-2099-4212","observed_orcids":["https://orcid.org/0000-0002-2099-4212"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Silvia Vilarinho","raw_affiliation_strings":["Department of Internal Medicine,Section of Digestive Diseases,Yale School of Medicine,New Haven,CT,USA","Department of Pathology,Yale School of Medicine,New Haven,CT,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine,Section of Digestive Diseases,Yale School of Medicine,New Haven,CT,USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Pathology,Yale School of Medicine,New Haven,CT,USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062072341","display_name":"Zhenghui Gordon Jiang","orcid":"https://orcid.org/0000-0003-0495-9940","observed_orcids":["https://orcid.org/0000-0003-0495-9940"]},"institutions":[{"id":"https://openalex.org/I1316535847","display_name":"Beth Israel Deaconess Medical Center","ror":"https://ror.org/04drvxt59","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316535847"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Z. Gordon Jiang","raw_affiliation_strings":["Department of Medicine,Beth Israel Deaconess Medical Center,Boston,MA,USA","Division of Gastroenterology and Hepatology,Beth Israel Deaconess Medical Center,Boston,MA,USA"],"raw_orcid":"https://orcid.org/0000-0003-0495-9940","affiliations":[{"raw_affiliation_string":"Department of Medicine,Beth Israel Deaconess Medical Center,Boston,MA,USA","institution_ids":["https://openalex.org/I1316535847"]},{"raw_affiliation_string":"Division of Gastroenterology and Hepatology,Beth Israel Deaconess Medical Center,Boston,MA,USA","institution_ids":["https://openalex.org/I1316535847"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016076793","display_name":"Brian D. Hobbs","orcid":"https://orcid.org/0000-0001-9564-0745","observed_orcids":["https://orcid.org/0000-0001-9564-0745"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brian D. Hobbs","raw_affiliation_strings":["Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","Division of Pulmonary and Critical Care Medicine,Brigham and Women's Hospital,Boston,MA,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Division of Pulmonary and Critical Care Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5018495347","display_name":"Michael H. Cho","orcid":"https://orcid.org/0000-0002-4907-1657","observed_orcids":["https://orcid.org/0000-0002-4907-1657"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I1316535847","display_name":"Beth Israel Deaconess Medical Center","ror":"https://ror.org/04drvxt59","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316535847"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Michael H. Cho","raw_affiliation_strings":["Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","Department of Medicine,Beth Israel Deaconess Medical Center,Boston,MA,USA","Division of Pulmonary and Critical Care Medicine,Brigham and Women's Hospital,Boston,MA,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Channing Division of Network Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Department of Medicine,Beth Israel Deaconess Medical Center,Boston,MA,USA","institution_ids":["https://openalex.org/I1316535847"]},{"raw_affiliation_string":"Division of Pulmonary and Critical Care Medicine,Brigham and Women's Hospital,Boston,MA,USA","institution_ids":["https://openalex.org/I1283280774"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5018495347"],"corresponding_institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I1316535847"],"apc_list":{"value":2500,"currency":"USD","value_usd":2500},"apc_paid":{"value":2500,"currency":"USD","value_usd":2500},"fwci":2.5422,"has_fulltext":false,"cited_by_count":27,"citation_normalized_percentile":{"value":0.90173954,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"5","issue":"8","first_page":"1348","last_page":"1361"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.3903999924659729,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.3903999924659729,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10351","display_name":"Liver Disease Diagnosis and Treatment","score":0.30790001153945923,"subfield":{"id":"https://openalex.org/subfields/2713","display_name":"Epidemiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11834","display_name":"Liver Diseases and Immunity","score":0.06650000065565109,"subfield":{"id":"https://openalex.org/subfields/2721","display_name":"Hepatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/alpha-1-antitrypsin","display_name":"alpha-1-antitrypsin","score":0.9160000085830688},{"id":"https://openalex.org/keywords/serpina1","display_name":"SERPINA1","score":0.9200000166893005},{"id":"https://openalex.org/keywords/pi-z-allele","display_name":"PI*Z allele","score":0.8999999761581421},{"id":"https://openalex.org/keywords/heterozygosity","display_name":"heterozygosity","score":0.8389999866485596},{"id":"https://openalex.org/keywords/liver-cirrhosis","display_name":"liver cirrhosis","score":0.7570000290870667},{"id":"https://openalex.org/keywords/liver-disease","display_name":"liver disease","score":0.8240000009536743},{"id":"https://openalex.org/keywords/liver-fibrosis","display_name":"liver fibrosis","score":0.546999990940094},{"id":"https://openalex.org/keywords/pnpla3","display_name":"PNPLA3","score":0.7409999966621399},{"id":"https://openalex.org/keywords/tm6sf2","display_name":"TM6SF2","score":0.9990000128746033},{"id":"https://openalex.org/keywords/alanine-aminotransferase","display_name":"alanine aminotransferase","score":0.902999997138977},{"id":"https://openalex.org/keywords/gene-environment-interaction","display_name":"gene-environment interaction","score":0.6610000133514404},{"id":"https://openalex.org/keywords/genetic-risk-factors","display_name":"genetic risk factors","score":0.4519999921321869},{"id":"https://openalex.org/keywords/liver-enzymes","display_name":"liver enzymes","score":0.4440000057220459},{"id":"https://openalex.org/keywords/uk-biobank","display_name":"UK Biobank","score":0.6190000176429749}],"concepts":[{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.7052625417709351},{"id":"https://openalex.org/C2777214474","wikidata":"https://www.wikidata.org/wiki/Q147778","display_name":"Cirrhosis","level":2,"score":0.5298421382904053},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.49078020453453064},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4905645251274109},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.48062556982040405},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.43917131423950195},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4308520555496216},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.4137091636657715},{"id":"https://openalex.org/C2777075537","wikidata":"https://www.wikidata.org/wiki/Q929737","display_name":"Liver disease","level":2,"score":0.41233742237091064},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.3757581412792206},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.32153987884521484},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13941696286201477}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1002/hep4.1718","doi":"https://doi.org/10.1002/hep4.1718","is_oa":true,"landing_page_url":"https://doi.org/10.1002/hep4.1718","pdf_url":null,"source":{"id":"https://openalex.org/S4210228550","display_name":"Hepatology Communications","issn_l":"2471-254X","issn":["2471-254X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hepatology Communications","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8369947","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8369947","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hepatol Commun","raw_type":"Text"},{"id":"pmid:34430780","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34430780","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hepatology communications","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:12ecadbc09b84d74be1f2c5fa3d2dfa5","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/12ecadbc09b84d74be1f2c5fa3d2dfa5","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Hepatology Communications, Vol 5, Iss 8, Pp 1348-1361 (2021)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1002/hep4.1718","doi":"https://doi.org/10.1002/hep4.1718","is_oa":true,"landing_page_url":"https://doi.org/10.1002/hep4.1718","pdf_url":null,"source":{"id":"https://openalex.org/S4210228550","display_name":"Hepatology Communications","issn_l":"2471-254X","issn":["2471-254X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hepatology Communications","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.6600000262260437,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1331846821","display_name":"Adenosine deaminase 2 regulates macrophage phenotype and liver fibrosis in nonalcoholic fatty liver disease","funder_award_id":"K08DK115883","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G1400645289","display_name":"Mechanistic insights into asthma pathogenesis through the integration of asthma genes, risk exposures, and metabolomics","funder_award_id":"R01HL141826","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G1685596180","display_name":"Deciphering the Genetic Basis of Portal Hypertension","funder_award_id":"K08DK113109","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G2133798367","display_name":"Integrative Metabolomics of Asthma Severity","funder_award_id":"R01HL123915","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G3137911730","display_name":"Identifying functional variants in COPD GWAS loci","funder_award_id":"R01HL137927","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G3313568080","display_name":"Network-based Methods for Understanding Genetic Determinants and Epistasis in COPD","funder_award_id":"K01HL129039","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G3482410060","display_name":"Genetic and Functional Dissection of a Cluster of COPD GWAS Signals on Chromosome 4q","funder_award_id":"R01HL147148","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G4238598618","display_name":"(2 of 2) Genetic Epidemiology of COPD","funder_award_id":"R01HL089856","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G5658329869","display_name":"(2 of 2) Genetic Epidemiology of COPD","funder_award_id":"U01HL089856","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G5850737185","display_name":null,"funder_award_id":"MC_PC_17228","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G5916180990","display_name":"Multi-omic Subtyping of Chronic Obstructive Pulmonary Disease","funder_award_id":"K08HL136928","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G9000880529","display_name":"COPD Susceptibility, Heterogeneity, and Progression: Proteomics and Genetics","funder_award_id":"R01HL133135","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G9000882003","display_name":"Distinct and Overlapping Pathways of Fibrosis and Emphysema in Cigarette Smokers","funder_award_id":"P01HL114501","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G9000896828","display_name":"SYSTEMS APPROACHES TO THE EPIDEMIOLOGY, GENETICS AND GENOMICS OF LUNG DISEASES","funder_award_id":"T32HL007427","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G9000906204","display_name":"Genetic and Genomic Characterization of the Occurrence and Progression of Interstitial Lung Abnormalities","funder_award_id":"R01HL135142","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320308400","display_name":"American Association for the Study of Liver Diseases","ror":"https://ror.org/005tjs461"},{"id":"https://openalex.org/F4320310104","display_name":"American College of Gastroenterology","ror":"https://ror.org/04cheq228"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":44,"referenced_works":["https://openalex.org/W168858771","https://openalex.org/W169328482","https://openalex.org/W1480615588","https://openalex.org/W1966549856","https://openalex.org/W1986710782","https://openalex.org/W2013416277","https://openalex.org/W2017511982","https://openalex.org/W2020963841","https://openalex.org/W2035499708","https://openalex.org/W2054695270","https://openalex.org/W2082704080","https://openalex.org/W2083120544","https://openalex.org/W2084628513","https://openalex.org/W2100099848","https://openalex.org/W2100787752","https://openalex.org/W2107524597","https://openalex.org/W2120478186","https://openalex.org/W2125858955","https://openalex.org/W2127417742","https://openalex.org/W2129772311","https://openalex.org/W2154095597","https://openalex.org/W2162669241","https://openalex.org/W2283222487","https://openalex.org/W2325223078","https://openalex.org/W2512932385","https://openalex.org/W2607779679","https://openalex.org/W2767038995","https://openalex.org/W2768099501","https://openalex.org/W2793543636","https://openalex.org/W2793779340","https://openalex.org/W2793981168","https://openalex.org/W2800941955","https://openalex.org/W2886905150","https://openalex.org/W2888207000","https://openalex.org/W2895486342","https://openalex.org/W2914319009","https://openalex.org/W2945920646","https://openalex.org/W2993918184","https://openalex.org/W3001138855","https://openalex.org/W3021030584","https://openalex.org/W3023605248","https://openalex.org/W4248532682","https://openalex.org/W6628806729","https://openalex.org/W7026626152"],"related_works":["https://openalex.org/W3137253652","https://openalex.org/W2793779340","https://openalex.org/W2616674968","https://openalex.org/W2021285506","https://openalex.org/W2886905150","https://openalex.org/W3021030584","https://openalex.org/W3113616298","https://openalex.org/W7168084029","https://openalex.org/W7221174278","https://openalex.org/W4313582804"],"abstract_inverted_index":{"The":[0,152],"serpin":[1],"family":[2],"A":[3],"member":[4,187],"1":[5],"(SERPINA1)":[6],"Z":[7,20,45,100,105,118,137,158,204,248,267,309,316],"allele":[8,21,46,101,106,119,138,159,205,249,268,310,317],"is":[9,24,34,319,329],"present":[10],"in":[11,14,49,67,255,292],"approximately":[12],"one":[13],"25":[15],"individuals":[16],"of":[17,29,61,97,116,135,143,156,164,265,305],"European":[18],"ancestry.":[19],"homozygosity":[22,134],"(Pi*ZZ)":[23],"the":[25,117,136,141,157,203,263,266,308],"most":[26],"common":[27],"cause":[28],"alpha":[30],"1\u2010antitrypsin":[31],"deficiency":[32],"and":[33,83,87,103,183,240,275,295,311],"a":[35,54,72,282],"proven":[36],"risk":[37,60,142,322,328],"factor":[38,323],"for":[39,85,154,269,324],"cirrhosis.":[40],"We":[41,64,75],"examined":[42,77],"whether":[43],"heterozygous":[44],"(Pi*Z)":[47],"carriers":[48],"United":[50],"Kingdom":[51],"(UK)":[52],"Biobank,":[53,71,92],"population\u2010based":[55],"cohort,":[56],"are":[57],"at":[58],"increased":[59,140],"liver":[62,81,256,325],"disease.":[63],"replicated":[65],"findings":[66],"Massachusetts":[68],"General":[69],"Brigham":[70],"hospital\u2010based":[73],"cohort.":[74],"also":[76,139],"variants":[78,291],"associated":[79,121,207],"with":[80,122,208],"disease":[82],"assessed":[84],"gene\u2013gene":[86],"gene\u2013environment":[88,283],"interactions.":[89],"In":[90,198],"UK":[91],"we":[93,286],"identified":[94],"1,493":[95],"cases":[96],"cirrhosis,":[98],"12,603":[99],"heterozygotes,":[102],"129":[104],"homozygotes":[107,250],"among":[108],"312,671":[109],"unrelated":[110],"white":[111],"British":[112],"participants.":[113],"Heterozygous":[114],"carriage":[115],"was":[120,160,206,302],"cirrhosis":[123,144,155],"compared":[124,200],"to":[125,162,201],"noncarriage":[126],"(odds":[127],"ratio":[128],"[OR],":[129],"1.53;":[130],"P":[131,147,178,193,213,222],"=":[132,148,179,194,214,215,223,230,236,244,273,279],"1.1\u00d710\u221204);":[133],"(OR,":[145,176,191],"11.8;":[146],"1.8":[149],"\u00d7":[150,181,196,217,225,232,238,246],"10\u221209).":[151],"OR":[153],"comparable":[161],"that":[163],"well\u2010established":[165],"genetic":[166,288],"variants,":[167],"including":[168],"patatin\u2010like":[169],"phospholipase":[170],"domain":[171],"containing":[172],"3":[173],"(PNPLA3)":[174],"I148M":[175],"1.48;":[177],"1.1":[180],"10\u221222)":[182],"transmembrane":[184],"6":[185],"superfamily":[186],"2":[188],"(TM6SF2)":[189],"E167K":[190],"1.34;":[192],"2.6":[195],"10\u221206).":[197],"heterozygotes":[199],"noncarriers,":[202],"higher":[209],"alanine":[210],"aminotransferase":[211,220],"(ALT;":[212],"4.6":[216],"10\u221246),":[218],"aspartate":[219],"(AST;":[221],"2.2":[224],"10\u221227),":[226],"alkaline":[227],"phosphatase":[228],"(P":[229,235,243,271,277],"3.3":[231],"10\u221243),":[233],"gamma\u2010glutamyltransferase":[234],"1.2":[237],"10\u221205),":[239],"total":[241],"bilirubin":[242],"6.4":[245],"10\u221206);":[247],"had":[251],"even":[252],"greater":[253],"elevations":[254],"biochemistries.":[257],"Body":[258],"mass":[259],"index":[260],"(BMI)":[261],"amplified":[262,330],"association":[264],"ALT":[270],"interaction":[272,278],"0.021)":[274],"AST":[276],"0.0040),":[280],"suggesting":[281],"interaction.":[284],"Finally,":[285],"demonstrated":[287],"interactions":[289],"between":[290,307],"PNPLA3,":[293],"TM6SF2,":[294],"hydroxysteroid":[296],"17\u2010beta":[297],"dehydrogenase":[298],"13":[299],"(HSD17B13);":[300],"there":[301],"no":[303],"evidence":[304],"epistasis":[306],"these":[312],"variants.":[313],"Conclusion:":[314],"SERPINA1":[315],"heterozygosity":[318],"an":[320],"important":[321],"disease;":[326],"this":[327],"by":[331],"increasing":[332],"BMI.":[333]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":2}],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2021-04-13T00:00:00"}
