Optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease

Controversy exists whether alpha-1 antitrypsin (A1AT) genotype testing should be performed as a first-line screening for A1AT heterozygous variants. METHODS: We calculated the median and interquartile range of A1AT level for each genotype in 4378 patients with chronic liver disease and “miss rate” o...

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Autores principales: Prakash, Sameer, Murali, Arvind R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Research Letter
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10019232/
https://www.ncbi.nlm.nih.gov/pubmed/37133851
http://dx.doi.org/10.1097/HC9.0000000000000023
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author Prakash, Sameer
Murali, Arvind R.
author_facet Prakash, Sameer
Murali, Arvind R.
author_sort Prakash, Sameer
collection PubMed
description Controversy exists whether alpha-1 antitrypsin (A1AT) genotype testing should be performed as a first-line screening for A1AT heterozygous variants. METHODS: We calculated the median and interquartile range of A1AT level for each genotype in 4378 patients with chronic liver disease and “miss rate” of MZ genotype identification at various cutoff levels. FINDINGS: Significant overlap in A1AT level noted with Pi*MM, MZ, and MS variants. Miss rate of Pi*MZ at a cutoff level <100 was 29%, <110 was 18%, <120 was 8%, and <130 was 4%. We suggest simultaneous measurement of A1AT level and genotype in patients with chronic liver disease.
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spelling pubmed-100192322023-03-16 Optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease Prakash, Sameer Murali, Arvind R. Hepatol Commun Research Letter Controversy exists whether alpha-1 antitrypsin (A1AT) genotype testing should be performed as a first-line screening for A1AT heterozygous variants. METHODS: We calculated the median and interquartile range of A1AT level for each genotype in 4378 patients with chronic liver disease and “miss rate” of MZ genotype identification at various cutoff levels. FINDINGS: Significant overlap in A1AT level noted with Pi*MM, MZ, and MS variants. Miss rate of Pi*MZ at a cutoff level <100 was 29%, <110 was 18%, <120 was 8%, and <130 was 4%. We suggest simultaneous measurement of A1AT level and genotype in patients with chronic liver disease. Lippincott Williams & Wilkins 2023-01-20 /pmc/articles/PMC10019232/ /pubmed/37133851 http://dx.doi.org/10.1097/HC9.0000000000000023 Text en Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Association for the Study of Liver Diseases. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (https://creativecommons.org/licenses/by/4.0/) (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/)
spellingShingle Research Letter
Prakash, Sameer
Murali, Arvind R.
Optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease
title Optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease
title_full Optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease
title_fullStr Optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease
title_full_unstemmed Optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease
title_short Optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease
title_sort optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease
topic Research Letter
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10019232/
https://www.ncbi.nlm.nih.gov/pubmed/37133851
http://dx.doi.org/10.1097/HC9.0000000000000023
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