Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease?
Background. Alpha-1 antitrypsin deficiency (AAT) is an inherited condition that predisposes to lung and/or liver disease. Objective. The current study examined the clinical features of the PiSS genotype. Methods. Nineteen study participants (PiSS) and 29 matched control participants (PiMM) were tele...
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| Format: | Article |
| Language: | English |
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Wiley
2010-01-01
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| Series: | Pulmonary Medicine |
| Online Access: | http://dx.doi.org/10.1155/2010/570679 |
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| _version_ | 1850223326728814592 |
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| author | Dawn McGee Laura Schwarz Rebecca McClure Lauren Peterka Farshid Rouhani Mark Brantly Charlie Strange |
| author_facet | Dawn McGee Laura Schwarz Rebecca McClure Lauren Peterka Farshid Rouhani Mark Brantly Charlie Strange |
| author_sort | Dawn McGee |
| collection | DOAJ |
| description | Background. Alpha-1 antitrypsin deficiency (AAT) is an inherited condition that predisposes to lung and/or liver disease. Objective. The current study examined the clinical features of the PiSS genotype. Methods. Nineteen study participants (PiSS) and 29 matched control participants (PiMM) were telephone interviewed using a standardized questionnaire. Demographic features, cigarette smoking, vocation, medication history, and clinical diagnoses were compared. Statistical analysis was performed. Finally, a comprehensive literature review was performed by two investigators. Results. 12/19 (63.2%) study participants reported the presence of lung and/or liver disease compared to 12/29 (41.4%) control participants. There trended toward having a higher frequency of medication allergies in the study population (42.11% versus 20.69%). Conclusions. The PiSS genotype was associated with a similar incidence of obstructive lung disease to controls. Selective bias intrinsic in testing for AAT deficiency and the rarity of the PiSS genotype will make future study of this association dependent on population-based tests. |
| format | Article |
| id | doaj-art-5dcac3391c624848be7cf7402071eede |
| institution | OA Journals |
| issn | 2090-1836 2090-1844 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Pulmonary Medicine |
| spelling | doaj-art-5dcac3391c624848be7cf7402071eede2025-08-20T02:06:00ZengWileyPulmonary Medicine2090-18362090-18442010-01-01201010.1155/2010/570679570679Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease?Dawn McGee0Laura Schwarz1Rebecca McClure2Lauren Peterka3Farshid Rouhani4Mark Brantly5Charlie Strange6Division of Pulmonary and Critical Care Medicine, Department of Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, MSC 630, Charleston, SC 29425-6300, USADivision of Pulmonary and Critical Care Medicine, Department of Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, MSC 630, Charleston, SC 29425-6300, USADivision of Pulmonary and Critical Care Medicine, Department of Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, MSC 630, Charleston, SC 29425-6300, USADivision of Pulmonary and Critical Care Medicine, Department of Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, MSC 630, Charleston, SC 29425-6300, USADivision of Pulmonary and Critical Care Medicine, College of Medicine, University of Florida, Gainesville, FL 32610-0225, USADivision of Pulmonary and Critical Care Medicine, College of Medicine, University of Florida, Gainesville, FL 32610-0225, USADivision of Pulmonary and Critical Care Medicine, Department of Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, MSC 630, Charleston, SC 29425-6300, USABackground. Alpha-1 antitrypsin deficiency (AAT) is an inherited condition that predisposes to lung and/or liver disease. Objective. The current study examined the clinical features of the PiSS genotype. Methods. Nineteen study participants (PiSS) and 29 matched control participants (PiMM) were telephone interviewed using a standardized questionnaire. Demographic features, cigarette smoking, vocation, medication history, and clinical diagnoses were compared. Statistical analysis was performed. Finally, a comprehensive literature review was performed by two investigators. Results. 12/19 (63.2%) study participants reported the presence of lung and/or liver disease compared to 12/29 (41.4%) control participants. There trended toward having a higher frequency of medication allergies in the study population (42.11% versus 20.69%). Conclusions. The PiSS genotype was associated with a similar incidence of obstructive lung disease to controls. Selective bias intrinsic in testing for AAT deficiency and the rarity of the PiSS genotype will make future study of this association dependent on population-based tests.http://dx.doi.org/10.1155/2010/570679 |
| spellingShingle | Dawn McGee Laura Schwarz Rebecca McClure Lauren Peterka Farshid Rouhani Mark Brantly Charlie Strange Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease? Pulmonary Medicine |
| title | Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease? |
| title_full | Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease? |
| title_fullStr | Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease? |
| title_full_unstemmed | Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease? |
| title_short | Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease? |
| title_sort | is piss alpha 1 antitrypsin deficiency associated with disease |
| url | http://dx.doi.org/10.1155/2010/570679 |
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