Polymorphism of alpha-1-antitrypsin in hematological malignancies
Alpha-1-antitrypsin (AAT) or serine protease inhibitor A1 (SERPINA1) is an important serine protease inhibitor in humans. The main physiological role of AAT is to inhibit neutrophil elastase (NE) released from triggered neutrophils, with an additional lesser role in the defense against damage inflic...
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Sociedade Brasileira de Genética
2009-01-01
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| Series: | Genetics and Molecular Biology |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400008 |
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| author | Aleksandra Topic Zorica Juranic Svetislav Jelic Ivana Golubicic Magazinovic |
| author_facet | Aleksandra Topic Zorica Juranic Svetislav Jelic Ivana Golubicic Magazinovic |
| author_sort | Aleksandra Topic |
| collection | DOAJ |
| description | Alpha-1-antitrypsin (AAT) or serine protease inhibitor A1 (SERPINA1) is an important serine protease inhibitor in humans. The main physiological role of AAT is to inhibit neutrophil elastase (NE) released from triggered neutrophils, with an additional lesser role in the defense against damage inflicted by other serine proteases, such as cathepsin G and proteinase 3. Although there is a reported association between AAT polymorphism and different types of cancer, this association with hematological malignancies (HM) is, as yet, unknown. We identified AAT phenotypes by isoelectric focusing (in the pH 4.2-4.9 range) in 151 serum samples from patients with HM (Hodgkins lymphomas, non-Hodgkins lymphomas and malignant monoclonal gammopathies). Healthy blood-donors constituted the control group (n = 272). The evaluated population of patients as well as the control group, were at Hardy-Weinberg equilibrium for the AAT gene (χ2 = 4.42, d.f.11, p = 0.96 and χ2 = 4.71, d.f.11, p = 0.97, respectively). There was no difference in the frequency of deficient AAT alleles (Pi Z and Pi S) between patients and control. However, we found a significantly higher frequency of PiM1M1 homozygote and PiM1 allele in HM patients than in control (for phenotype: f = 0.5166 and 0.4118 respectively, p = 0.037; for allele: f = 0.7020 and 0.6360 respectively, p = 0.05). In addition, PiM homozygotes in HM-patients were more numerous than in controls (59% and 48%, respectively, p = 0.044). PiM1 alleles and PiM1 homozygotes are both associated with hematological malignancies, although this is considered a functionally normal AAT variant. |
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| format | Article |
| id | doaj.art-9cda8e1e913d4b9aa1d9ffc4b58b64e2 |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-12-11T14:29:45Z |
| publishDate | 2009-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-9cda8e1e913d4b9aa1d9ffc4b58b64e22022-12-22T01:02:30ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852009-01-01324716719Polymorphism of alpha-1-antitrypsin in hematological malignanciesAleksandra TopicZorica JuranicSvetislav JelicIvana Golubicic MagazinovicAlpha-1-antitrypsin (AAT) or serine protease inhibitor A1 (SERPINA1) is an important serine protease inhibitor in humans. The main physiological role of AAT is to inhibit neutrophil elastase (NE) released from triggered neutrophils, with an additional lesser role in the defense against damage inflicted by other serine proteases, such as cathepsin G and proteinase 3. Although there is a reported association between AAT polymorphism and different types of cancer, this association with hematological malignancies (HM) is, as yet, unknown. We identified AAT phenotypes by isoelectric focusing (in the pH 4.2-4.9 range) in 151 serum samples from patients with HM (Hodgkins lymphomas, non-Hodgkins lymphomas and malignant monoclonal gammopathies). Healthy blood-donors constituted the control group (n = 272). The evaluated population of patients as well as the control group, were at Hardy-Weinberg equilibrium for the AAT gene (χ2 = 4.42, d.f.11, p = 0.96 and χ2 = 4.71, d.f.11, p = 0.97, respectively). There was no difference in the frequency of deficient AAT alleles (Pi Z and Pi S) between patients and control. However, we found a significantly higher frequency of PiM1M1 homozygote and PiM1 allele in HM patients than in control (for phenotype: f = 0.5166 and 0.4118 respectively, p = 0.037; for allele: f = 0.7020 and 0.6360 respectively, p = 0.05). In addition, PiM homozygotes in HM-patients were more numerous than in controls (59% and 48%, respectively, p = 0.044). PiM1 alleles and PiM1 homozygotes are both associated with hematological malignancies, although this is considered a functionally normal AAT variant.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400008Alpha-1-antitrypsinpolymorphismlymphomas |
| spellingShingle | Aleksandra Topic Zorica Juranic Svetislav Jelic Ivana Golubicic Magazinovic Polymorphism of alpha-1-antitrypsin in hematological malignancies Genetics and Molecular Biology Alpha-1-antitrypsin polymorphism lymphomas |
| title | Polymorphism of alpha-1-antitrypsin in hematological malignancies |
| title_full | Polymorphism of alpha-1-antitrypsin in hematological malignancies |
| title_fullStr | Polymorphism of alpha-1-antitrypsin in hematological malignancies |
| title_full_unstemmed | Polymorphism of alpha-1-antitrypsin in hematological malignancies |
| title_short | Polymorphism of alpha-1-antitrypsin in hematological malignancies |
| title_sort | polymorphism of alpha 1 antitrypsin in hematological malignancies |
| topic | Alpha-1-antitrypsin polymorphism lymphomas |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400008 |
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