Rare alpha-1-antitrypsin variants: are they really so rare?
Alpha-1-antitrypsin (α1-AT) deficiency is mainly evaluated in the diagnostic process of chronic obstructive pulmonary disease (COPD). Around 95% of individuals with severe α1-AT deficiency carry the PI*ZZ genotype. Little is known about the epidemiology of the remaining deficient α1-AT variants, whi...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2012-04-01
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| Series: | Therapeutic Advances in Respiratory Disease |
| Online Access: | https://doi.org/10.1177/1753465811434320 |
| _version_ | 1818993320487026688 |
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| author | Francisco Rodriguez-Frias Marc Miravitlles Rafael Vidal Silvia Camos Rosendo Jardi |
| author_facet | Francisco Rodriguez-Frias Marc Miravitlles Rafael Vidal Silvia Camos Rosendo Jardi |
| author_sort | Francisco Rodriguez-Frias |
| collection | DOAJ |
| description | Alpha-1-antitrypsin (α1-AT) deficiency is mainly evaluated in the diagnostic process of chronic obstructive pulmonary disease (COPD). Around 95% of individuals with severe α1-AT deficiency carry the PI*ZZ genotype. Little is known about the epidemiology of the remaining deficient α1-AT variants, which are called ‘rare’ due to their low prevalence. The retrospective revision of 3511 α1-AT deficiency determinations performed in Barcelona from 1998 to 2010 detected 1.6% of cases with rare α1-AT alleles, a rate similar to those reported in other European studies. Among these variants, PI*I and PI*Mmalton represented 54% of cases. Hence, the so-called ‘rare’ α1-AT alleles may not be rare as has been assumed. It would be of interest to implement simple allele-specific molecular biology methods to study the most prevalent rare variants in each region. Augmentation therapy is recommended in patients with emphysema and PI*ZZ genotype, but there is little evidence regarding the implications of rare variants on therapy. |
| first_indexed | 2024-12-20T20:40:11Z |
| format | Article |
| id | doaj.art-738de04e10f74d0bad0a037214d97de7 |
| institution | Directory Open Access Journal |
| issn | 1753-4658 1753-4666 |
| language | English |
| last_indexed | 2024-12-20T20:40:11Z |
| publishDate | 2012-04-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Therapeutic Advances in Respiratory Disease |
| spelling | doaj.art-738de04e10f74d0bad0a037214d97de72022-12-21T19:27:08ZengSAGE PublishingTherapeutic Advances in Respiratory Disease1753-46581753-46662012-04-01610.1177/1753465811434320Rare alpha-1-antitrypsin variants: are they really so rare?Francisco Rodriguez-FriasMarc MiravitllesRafael VidalSilvia CamosRosendo JardiAlpha-1-antitrypsin (α1-AT) deficiency is mainly evaluated in the diagnostic process of chronic obstructive pulmonary disease (COPD). Around 95% of individuals with severe α1-AT deficiency carry the PI*ZZ genotype. Little is known about the epidemiology of the remaining deficient α1-AT variants, which are called ‘rare’ due to their low prevalence. The retrospective revision of 3511 α1-AT deficiency determinations performed in Barcelona from 1998 to 2010 detected 1.6% of cases with rare α1-AT alleles, a rate similar to those reported in other European studies. Among these variants, PI*I and PI*Mmalton represented 54% of cases. Hence, the so-called ‘rare’ α1-AT alleles may not be rare as has been assumed. It would be of interest to implement simple allele-specific molecular biology methods to study the most prevalent rare variants in each region. Augmentation therapy is recommended in patients with emphysema and PI*ZZ genotype, but there is little evidence regarding the implications of rare variants on therapy.https://doi.org/10.1177/1753465811434320 |
| spellingShingle | Francisco Rodriguez-Frias Marc Miravitlles Rafael Vidal Silvia Camos Rosendo Jardi Rare alpha-1-antitrypsin variants: are they really so rare? Therapeutic Advances in Respiratory Disease |
| title | Rare alpha-1-antitrypsin variants: are they really so rare? |
| title_full | Rare alpha-1-antitrypsin variants: are they really so rare? |
| title_fullStr | Rare alpha-1-antitrypsin variants: are they really so rare? |
| title_full_unstemmed | Rare alpha-1-antitrypsin variants: are they really so rare? |
| title_short | Rare alpha-1-antitrypsin variants: are they really so rare? |
| title_sort | rare alpha 1 antitrypsin variants are they really so rare |
| url | https://doi.org/10.1177/1753465811434320 |
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