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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...

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Autores principales: ÇÖRTÜK, Mustafa, DEMİRKOL, Barış, ARSLAN, Melih Akay, İLHAN, Umut, KALKAN, Yunus Emre, TURAN, Demet, GÜL, Şule, ÇINARKA, Halit, BAYDİLİ, Kürşad Nuri, ÇETİNKAYA, Erdoğan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Scientific and Technological Research Council of Turkey (TUBITAK) 2022
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.
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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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