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Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common
BACKGROUND/AIM: Alpha-1 antitrypsin (α1-AT) is a protease inhibitor that is largely released from liver cells. It inhibits neutrophil elastase and its deficiency increases the risk of developing chronic obstructive pulmonary disease (COPD). The frequency of α1-AT deficiency has been reported with di...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Scientific and Technological Research Council of Turkey (TUBITAK)
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10395703/ https://www.ncbi.nlm.nih.gov/pubmed/36422500 http://dx.doi.org/10.55730/1300-0144.5486 |
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author | ÇÖRTÜK, Mustafa DEMİRKOL, Barış ARSLAN, Melih Akay İLHAN, Umut KALKAN, Yunus Emre TURAN, Demet GÜL, Şule ÇINARKA, Halit BAYDİLİ, Kürşad Nuri ÇETİNKAYA, Erdoğan |
author_facet | ÇÖRTÜK, Mustafa DEMİRKOL, Barış ARSLAN, Melih Akay İLHAN, Umut KALKAN, Yunus Emre TURAN, Demet GÜL, Şule ÇINARKA, Halit BAYDİLİ, Kürşad Nuri ÇETİNKAYA, Erdoğan |
author_sort | ÇÖRTÜK, Mustafa |
collection | PubMed |
description | BACKGROUND/AIM: Alpha-1 antitrypsin (α1-AT) is a protease inhibitor that is largely released from liver cells. It inhibits neutrophil elastase and its deficiency increases the risk of developing chronic obstructive pulmonary disease (COPD). The frequency of α1-AT deficiency has been reported with different prevalence rates in different parts of the world. The most common α1-AT variant causing α1-AT deficiency is the Pi*Z allele. In this study, we aimed to determine the frequency of the α1-AT genotypic variant in COPD patients in our country. MATERIALS AND METHODS: In this study, 196 consecutive COPD patients admitted to our clinic were included. In addition to recording the demographic data of the volunteers, a dry drop of blood sample was taken from the fingertip for the SERPINA1 genotype study. RESULTS: One hundred and fifty-eight (80.6%) of the patients were male and the mean age was 56.92 ± 9.84 years. A variant in the SERPINA1 gene was detected in a total of 14 (7.1%) COPD patients. Pi*ZZ homozygous variant was detected in only 1 (0.51%) patient, while Pi*MZ was detected in 3 (1.53%) patients. The Pi*S variant was never detected. Various rare heterozygous variants were detected in 9 (4.6%) patients and a single point mutation was found in one (0.51%) patient. Serum α1-AT levels were significantly lower in patients with variants compared to the Pi*MM group (p < 0.001). CONCLUSION: In this study, which investigated the genotypic α1-AT variant frequency in COPD patients for the first time in our country, we found that the percentage of homozygous Pi*ZZ patients was 0.51%, but when heterozygous α1-AT gene variant and single point mutation were included, the frequency was 7.1%. At the same time, while the Pi*S variant was never detected, rare variants were found more frequently than expected. |
format | Online Article Text |
id | pubmed-10395703 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Scientific and Technological Research Council of Turkey (TUBITAK) |
record_format | MEDLINE/PubMed |
spelling | pubmed-103957032023-08-03 Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common ÇÖRTÜK, Mustafa DEMİRKOL, Barış ARSLAN, Melih Akay İLHAN, Umut KALKAN, Yunus Emre TURAN, Demet GÜL, Şule ÇINARKA, Halit BAYDİLİ, Kürşad Nuri ÇETİNKAYA, Erdoğan Turk J Med Sci Research Article BACKGROUND/AIM: Alpha-1 antitrypsin (α1-AT) is a protease inhibitor that is largely released from liver cells. It inhibits neutrophil elastase and its deficiency increases the risk of developing chronic obstructive pulmonary disease (COPD). The frequency of α1-AT deficiency has been reported with different prevalence rates in different parts of the world. The most common α1-AT variant causing α1-AT deficiency is the Pi*Z allele. In this study, we aimed to determine the frequency of the α1-AT genotypic variant in COPD patients in our country. MATERIALS AND METHODS: In this study, 196 consecutive COPD patients admitted to our clinic were included. In addition to recording the demographic data of the volunteers, a dry drop of blood sample was taken from the fingertip for the SERPINA1 genotype study. RESULTS: One hundred and fifty-eight (80.6%) of the patients were male and the mean age was 56.92 ± 9.84 years. A variant in the SERPINA1 gene was detected in a total of 14 (7.1%) COPD patients. Pi*ZZ homozygous variant was detected in only 1 (0.51%) patient, while Pi*MZ was detected in 3 (1.53%) patients. The Pi*S variant was never detected. Various rare heterozygous variants were detected in 9 (4.6%) patients and a single point mutation was found in one (0.51%) patient. Serum α1-AT levels were significantly lower in patients with variants compared to the Pi*MM group (p < 0.001). CONCLUSION: In this study, which investigated the genotypic α1-AT variant frequency in COPD patients for the first time in our country, we found that the percentage of homozygous Pi*ZZ patients was 0.51%, but when heterozygous α1-AT gene variant and single point mutation were included, the frequency was 7.1%. At the same time, while the Pi*S variant was never detected, rare variants were found more frequently than expected. Scientific and Technological Research Council of Turkey (TUBITAK) 2022-08-30 /pmc/articles/PMC10395703/ /pubmed/36422500 http://dx.doi.org/10.55730/1300-0144.5486 Text en © TÜBİTAK https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License. |
spellingShingle | Research Article ÇÖRTÜK, Mustafa DEMİRKOL, Barış ARSLAN, Melih Akay İLHAN, Umut KALKAN, Yunus Emre TURAN, Demet GÜL, Şule ÇINARKA, Halit BAYDİLİ, Kürşad Nuri ÇETİNKAYA, Erdoğan Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common |
title | Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common |
title_full | Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common |
title_fullStr | Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common |
title_full_unstemmed | Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common |
title_short | Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common |
title_sort | frequency of alpha-1 antitrypsin deficiency and unexpected results in copd patients in turkey; rare variants are common |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10395703/ https://www.ncbi.nlm.nih.gov/pubmed/36422500 http://dx.doi.org/10.55730/1300-0144.5486 |
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