Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD
Abstract Background Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens. Methods The alpha1-antitrypsin (AAT) co...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2017-10-01
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| Series: | Multidisciplinary Respiratory Medicine |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s40248-017-0104-5 |
| _version_ | 1797284728674451456 |
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| author | Ardak Zhumagaliyeva Stefania Ottaviani Timm Greulich Marina Gorrini Claus Vogelmeier Ludmila Karazhanova Gulmira Nurgazina Annalisa DeSilvestri Victor Kotke Valentina Barzon Michele Zorzetto Angelo Corsico Ilaria Ferrarotti |
| author_facet | Ardak Zhumagaliyeva Stefania Ottaviani Timm Greulich Marina Gorrini Claus Vogelmeier Ludmila Karazhanova Gulmira Nurgazina Annalisa DeSilvestri Victor Kotke Valentina Barzon Michele Zorzetto Angelo Corsico Ilaria Ferrarotti |
| author_sort | Ardak Zhumagaliyeva |
| collection | DOAJ |
| description | Abstract Background Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens. Methods The alpha1-antitrypsin (AAT) concentration was determined by nephelometry, PCR was used to detect PiS and PiZ alleles; and isoelectric focusing was used to confirm questionable genotype results and detect rare AAT variants. Results To this aim, 187 Kazakh subjects with COPD were recruited. Blood samples were collected as dried blood spot. Genotyping of 187 samples revealed 3 (1.6%) PI*MZ and 1 (0.53%) PI*MS, Phenotyping identified also two sample (1.1%) with phenotype PiMI. Allelic frequencies of pathological mutations Z, S and I resulted 0.8%, 0.3%, 0.5%, respectively, in COPD Kazakh population. Conclusion This study proved that AATD is present in the Kazakh population. These results support the general concept of targeted screening for AAT deficiency in countries like Kazakhstan, with a large population of COPD patients and low awareness among care-givers about this genetic condition. |
| first_indexed | 2024-03-07T17:51:58Z |
| format | Article |
| id | doaj.art-97861dcd9aaa424f96b56faba20a469b |
| institution | Directory Open Access Journal |
| issn | 2049-6958 |
| language | English |
| last_indexed | 2024-03-07T17:51:58Z |
| publishDate | 2017-10-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Multidisciplinary Respiratory Medicine |
| spelling | doaj.art-97861dcd9aaa424f96b56faba20a469b2024-03-02T13:46:28ZengPAGEPress PublicationsMultidisciplinary Respiratory Medicine2049-69582017-10-011211810.1186/s40248-017-0104-5Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPDArdak Zhumagaliyeva0Stefania Ottaviani1Timm Greulich2Marina Gorrini3Claus Vogelmeier4Ludmila Karazhanova5Gulmira Nurgazina6Annalisa DeSilvestri7Victor Kotke8Valentina Barzon9Michele Zorzetto10Angelo Corsico11Ilaria Ferrarotti12Semey State Medical UniversityCenter for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of PaviaUniversity Clinic of Marburg and Gissen, Center for Research alpha-1-antitrypsin deficiencyCenter for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of PaviaUniversity Clinic of Marburg and Gissen, Center for Research alpha-1-antitrypsin deficiencySemey State Medical UniversityKazakh Medical University of Continuing EducationStatistics Department Fondazione IRCCS Policlinico San MatteoUniversity Clinic of Marburg and Gissen, Center for Research alpha-1-antitrypsin deficiencyCenter for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of PaviaCenter for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of PaviaCenter for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of PaviaSemey State Medical UniversityAbstract Background Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens. Methods The alpha1-antitrypsin (AAT) concentration was determined by nephelometry, PCR was used to detect PiS and PiZ alleles; and isoelectric focusing was used to confirm questionable genotype results and detect rare AAT variants. Results To this aim, 187 Kazakh subjects with COPD were recruited. Blood samples were collected as dried blood spot. Genotyping of 187 samples revealed 3 (1.6%) PI*MZ and 1 (0.53%) PI*MS, Phenotyping identified also two sample (1.1%) with phenotype PiMI. Allelic frequencies of pathological mutations Z, S and I resulted 0.8%, 0.3%, 0.5%, respectively, in COPD Kazakh population. Conclusion This study proved that AATD is present in the Kazakh population. These results support the general concept of targeted screening for AAT deficiency in countries like Kazakhstan, with a large population of COPD patients and low awareness among care-givers about this genetic condition.http://link.springer.com/article/10.1186/s40248-017-0104-5Alpha-1 antitrypsinChronic obstructive pulmonary diseaseGeneticsGenotypeOrphan disease |
| spellingShingle | Ardak Zhumagaliyeva Stefania Ottaviani Timm Greulich Marina Gorrini Claus Vogelmeier Ludmila Karazhanova Gulmira Nurgazina Annalisa DeSilvestri Victor Kotke Valentina Barzon Michele Zorzetto Angelo Corsico Ilaria Ferrarotti Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD Multidisciplinary Respiratory Medicine Alpha-1 antitrypsin Chronic obstructive pulmonary disease Genetics Genotype Orphan disease |
| title | Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD |
| title_full | Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD |
| title_fullStr | Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD |
| title_full_unstemmed | Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD |
| title_short | Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD |
| title_sort | case finding for alpha1 antitrypsin deficiency in kazakh patients with copd |
| topic | Alpha-1 antitrypsin Chronic obstructive pulmonary disease Genetics Genotype Orphan disease |
| url | http://link.springer.com/article/10.1186/s40248-017-0104-5 |
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