Population Genetic Screening for Alpha1-Antitrypsin Deficiency in a High-Prevalence Area
Background: Current guidelines for α1-antitrypsin deficiency (AATD) state that adult population screening should only be done in high-risk areas. Up-to-date genetic methods are always recommended. Objectives: To determine the prevalence of AATD in a suspected high-risk area by population screening,...
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| creator | Corda, Luciano Medicina, Daniela La Piana, Giuseppe Emanuele Bertella, Enrica Moretti, Giovanni Bianchi, Luca Pinelli, Valentina Savoldi, Gianfranco Baiardi, Paola Facchetti, Fabio Gatta, Nuccia Annesi-Maesano, Isabella Balbi, Bruno |
| description | Background: Current guidelines for α1-antitrypsin deficiency (AATD) state that adult population screening should only be done in high-risk areas. Up-to-date genetic methods are always recommended. Objectives: To determine the prevalence of AATD in a suspected high-risk area by population screening, applying new genetic analyses and comparing the prevalence of liver and lung abnormalities in subjects with or without AATD. Methods: Adult residents of Pezzaze, a village in an Italian alpine valley, voluntarily participated in the screening, and were examined for: nephelometric α1-antitrypsin (AAT) serum level, DNA analysis (mutagenic polymerase chain reaction and restriction fragment length polymorphism tests for Z and S AATD causative mutations, and denaturing high-performance liquid chromatography and/or direct gene sequencing if needed), serum aspartate and alanine transaminases, a respiratory questionnaire and the Medical Research Council dyspnea index scale. The prevalence of AATD was compared with that expected in Italy (Hardy-Weinberg equilibrium), and transaminases and the prevalence of respiratory symptoms were compared between study groups. Results: Of 1,353 residents, 817 (60.4%) participated; 67 (8.2%) had low AAT serum levels ( |
| doi_str_mv | 10.1159/000325067 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pasca</sourceid><recordid>TN_cdi_pascalfrancis_primary_24603161</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>898508405</sourcerecordid><originalsourceid>FETCH-LOGICAL-c431t-e86388b351cba9e1cc46aceec3fa3ab4aee1e878135ccf642981fa41b66389a93</originalsourceid><addsrcrecordid>eNpd0d-L1DAQB_AgireePvguUgQRH6qZ5scmj-XUW2HBAxV8C9M43c3ZTXtJe7D_vV123QOfQobPzDB8GXsJ_AOAsh8556JSXC8fsQXISpRcKP2YLTivVLm0Ai7Ys5xvOQdlTPWUXVQgl9KCXrBfN_0wdTiGPhbXFGkMvvjuE1EMcVO0fSrqbtgilHUcw5j2Qw6x-ERt8IGi3xfzD4tV2GzLm0T32M1FKupE-Jw9abHL9OL0XrKfXz7_uFqV62_XX6_qdemlgLEko4UxjVDgG7QE3kuNnsiLFgU2EomAzNKAUN63WlbWQIsSGj33WbTikr0_zt1i54YUdpj2rsfgVvXaHWqcaylByHuY7bujHVJ_N1Ee3S5kT12HkfopO2ON4kZyNcs3_8nbfkpxPsRZ4LLiVuiH1T71OSdqz_uBu0Mw7hzMbF-fBk7Njn6f5b8kZvD2BDB77NqE0Yf84KTmAvThhldH9wfThtIZnPb8BWLOm-k</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>910420936</pqid></control><display><type>article</type><title>Population Genetic Screening for Alpha1-Antitrypsin Deficiency in a High-Prevalence Area</title><source>MEDLINE</source><source>Karger Journals</source><source>Alma/SFX Local Collection</source><creator>Corda, Luciano ; Medicina, Daniela ; La Piana, Giuseppe Emanuele ; Bertella, Enrica ; Moretti, Giovanni ; Bianchi, Luca ; Pinelli, Valentina ; Savoldi, Gianfranco ; Baiardi, Paola ; Facchetti, Fabio ; Gatta, Nuccia ; Annesi-Maesano, Isabella ; Balbi, Bruno</creator><creatorcontrib>Corda, Luciano ; Medicina, Daniela ; La Piana, Giuseppe Emanuele ; Bertella, Enrica ; Moretti, Giovanni ; Bianchi, Luca ; Pinelli, Valentina ; Savoldi, Gianfranco ; Baiardi, Paola ; Facchetti, Fabio ; Gatta, Nuccia ; Annesi-Maesano, Isabella ; Balbi, Bruno</creatorcontrib><description>Background: Current guidelines for α1-antitrypsin deficiency (AATD) state that adult population screening should only be done in high-risk areas. Up-to-date genetic methods are always recommended. Objectives: To determine the prevalence of AATD in a suspected high-risk area by population screening, applying new genetic analyses and comparing the prevalence of liver and lung abnormalities in subjects with or without AATD. Methods: Adult residents of Pezzaze, a village in an Italian alpine valley, voluntarily participated in the screening, and were examined for: nephelometric α1-antitrypsin (AAT) serum level, DNA analysis (mutagenic polymerase chain reaction and restriction fragment length polymorphism tests for Z and S AATD causative mutations, and denaturing high-performance liquid chromatography and/or direct gene sequencing if needed), serum aspartate and alanine transaminases, a respiratory questionnaire and the Medical Research Council dyspnea index scale. The prevalence of AATD was compared with that expected in Italy (Hardy-Weinberg equilibrium), and transaminases and the prevalence of respiratory symptoms were compared between study groups. Results: Of 1,353 residents, 817 (60.4%) participated; 67 (8.2%) had low AAT serum levels (<90 mg/dl); 118 were carriers of AATD-associated alleles, 4 (0.5%) homozygotes or compound heterozygotes (1 Z, 1 S, 2 ZP brescia ), 114 (14%) heterozygotes (46 Z, 52 S, 9 P brescia , 4 M wurzburg , 2 I, 1 P lowell ). The prevalence and frequency of all AATD-related alleles was higher than expected for Italy (p < 0.001). There were no differences in symptoms of respiratory disease and transaminases between individuals with normal and low serum AAT. Conclusion: The screening design is one of the main strengths of this study. The large number of mostly asymptomatic individuals with AATD identified suggests that in high-risk areas adult population screening programs employing the latest genetic methods are feasible. Early recognition of individuals at risk means primary or secondary prevention measures can be taken.</description><identifier>ISSN: 0025-7931</identifier><identifier>EISSN: 1423-0356</identifier><identifier>DOI: 10.1159/000325067</identifier><identifier>PMID: 21474916</identifier><identifier>CODEN: RESPBD</identifier><language>eng</language><publisher>Basel, Switzerland: Karger</publisher><subject>alpha 1-Antitrypsin - blood ; alpha 1-Antitrypsin - genetics ; alpha 1-Antitrypsin - metabolism ; alpha 1-Antitrypsin Deficiency - complications ; alpha 1-Antitrypsin Deficiency - epidemiology ; alpha 1-Antitrypsin Deficiency - genetics ; Biological and medical sciences ; Chromatography, High Pressure Liquid ; Clinical Investigations ; DNA Mutational Analysis ; Errors of metabolism ; Genetic disorders ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Italy - epidemiology ; Life Sciences ; Liver ; Liver Diseases - epidemiology ; Liver Diseases - etiology ; Liver Diseases - genetics ; Lung Diseases - epidemiology ; Lung Diseases - etiology ; Lung Diseases - genetics ; Lungs ; Male ; Mass Screening ; Medical sciences ; Medical screening ; Metabolic diseases ; Middle Aged ; Mutation ; Phenotype ; Pneumology ; Prevalence ; Proteins and glycoproteins ; Risk Factors ; Santé publique et épidémiologie ; Surveys and Questionnaires</subject><ispartof>Respiration, 2011-01, Vol.82 (5), p.418-425</ispartof><rights>2011 S. Karger AG, Basel</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2011 S. Karger AG, Basel.</rights><rights>Copyright (c) 2011 S. Karger AG, Basel</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c431t-e86388b351cba9e1cc46aceec3fa3ab4aee1e878135ccf642981fa41b66389a93</citedby><cites>FETCH-LOGICAL-c431t-e86388b351cba9e1cc46aceec3fa3ab4aee1e878135ccf642981fa41b66389a93</cites><orcidid>0000-0002-6340-9300 ; 0000-0001-8697-6896</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,2429,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24603161$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21474916$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.sorbonne-universite.fr/hal-00644134$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Corda, Luciano</creatorcontrib><creatorcontrib>Medicina, Daniela</creatorcontrib><creatorcontrib>La Piana, Giuseppe Emanuele</creatorcontrib><creatorcontrib>Bertella, Enrica</creatorcontrib><creatorcontrib>Moretti, Giovanni</creatorcontrib><creatorcontrib>Bianchi, Luca</creatorcontrib><creatorcontrib>Pinelli, Valentina</creatorcontrib><creatorcontrib>Savoldi, Gianfranco</creatorcontrib><creatorcontrib>Baiardi, Paola</creatorcontrib><creatorcontrib>Facchetti, Fabio</creatorcontrib><creatorcontrib>Gatta, Nuccia</creatorcontrib><creatorcontrib>Annesi-Maesano, Isabella</creatorcontrib><creatorcontrib>Balbi, Bruno</creatorcontrib><title>Population Genetic Screening for Alpha1-Antitrypsin Deficiency in a High-Prevalence Area</title><title>Respiration</title><addtitle>Respiration</addtitle><description>Background: Current guidelines for α1-antitrypsin deficiency (AATD) state that adult population screening should only be done in high-risk areas. Up-to-date genetic methods are always recommended. Objectives: To determine the prevalence of AATD in a suspected high-risk area by population screening, applying new genetic analyses and comparing the prevalence of liver and lung abnormalities in subjects with or without AATD. Methods: Adult residents of Pezzaze, a village in an Italian alpine valley, voluntarily participated in the screening, and were examined for: nephelometric α1-antitrypsin (AAT) serum level, DNA analysis (mutagenic polymerase chain reaction and restriction fragment length polymorphism tests for Z and S AATD causative mutations, and denaturing high-performance liquid chromatography and/or direct gene sequencing if needed), serum aspartate and alanine transaminases, a respiratory questionnaire and the Medical Research Council dyspnea index scale. The prevalence of AATD was compared with that expected in Italy (Hardy-Weinberg equilibrium), and transaminases and the prevalence of respiratory symptoms were compared between study groups. Results: Of 1,353 residents, 817 (60.4%) participated; 67 (8.2%) had low AAT serum levels (<90 mg/dl); 118 were carriers of AATD-associated alleles, 4 (0.5%) homozygotes or compound heterozygotes (1 Z, 1 S, 2 ZP brescia ), 114 (14%) heterozygotes (46 Z, 52 S, 9 P brescia , 4 M wurzburg , 2 I, 1 P lowell ). The prevalence and frequency of all AATD-related alleles was higher than expected for Italy (p < 0.001). There were no differences in symptoms of respiratory disease and transaminases between individuals with normal and low serum AAT. Conclusion: The screening design is one of the main strengths of this study. The large number of mostly asymptomatic individuals with AATD identified suggests that in high-risk areas adult population screening programs employing the latest genetic methods are feasible. Early recognition of individuals at risk means primary or secondary prevention measures can be taken.</description><subject>alpha 1-Antitrypsin - blood</subject><subject>alpha 1-Antitrypsin - genetics</subject><subject>alpha 1-Antitrypsin - metabolism</subject><subject>alpha 1-Antitrypsin Deficiency - complications</subject><subject>alpha 1-Antitrypsin Deficiency - epidemiology</subject><subject>alpha 1-Antitrypsin Deficiency - genetics</subject><subject>Biological and medical sciences</subject><subject>Chromatography, High Pressure Liquid</subject><subject>Clinical Investigations</subject><subject>DNA Mutational Analysis</subject><subject>Errors of metabolism</subject><subject>Genetic disorders</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Italy - epidemiology</subject><subject>Life Sciences</subject><subject>Liver</subject><subject>Liver Diseases - epidemiology</subject><subject>Liver Diseases - etiology</subject><subject>Liver Diseases - genetics</subject><subject>Lung Diseases - epidemiology</subject><subject>Lung Diseases - etiology</subject><subject>Lung Diseases - genetics</subject><subject>Lungs</subject><subject>Male</subject><subject>Mass Screening</subject><subject>Medical sciences</subject><subject>Medical screening</subject><subject>Metabolic diseases</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Phenotype</subject><subject>Pneumology</subject><subject>Prevalence</subject><subject>Proteins and glycoproteins</subject><subject>Risk Factors</subject><subject>Santé publique et épidémiologie</subject><subject>Surveys and Questionnaires</subject><issn>0025-7931</issn><issn>1423-0356</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNpd0d-L1DAQB_AgireePvguUgQRH6qZ5scmj-XUW2HBAxV8C9M43c3ZTXtJe7D_vV123QOfQobPzDB8GXsJ_AOAsh8556JSXC8fsQXISpRcKP2YLTivVLm0Ai7Ys5xvOQdlTPWUXVQgl9KCXrBfN_0wdTiGPhbXFGkMvvjuE1EMcVO0fSrqbtgilHUcw5j2Qw6x-ERt8IGi3xfzD4tV2GzLm0T32M1FKupE-Jw9abHL9OL0XrKfXz7_uFqV62_XX6_qdemlgLEko4UxjVDgG7QE3kuNnsiLFgU2EomAzNKAUN63WlbWQIsSGj33WbTikr0_zt1i54YUdpj2rsfgVvXaHWqcaylByHuY7bujHVJ_N1Ee3S5kT12HkfopO2ON4kZyNcs3_8nbfkpxPsRZ4LLiVuiH1T71OSdqz_uBu0Mw7hzMbF-fBk7Njn6f5b8kZvD2BDB77NqE0Yf84KTmAvThhldH9wfThtIZnPb8BWLOm-k</recordid><startdate>20110101</startdate><enddate>20110101</enddate><creator>Corda, Luciano</creator><creator>Medicina, Daniela</creator><creator>La Piana, Giuseppe Emanuele</creator><creator>Bertella, Enrica</creator><creator>Moretti, Giovanni</creator><creator>Bianchi, Luca</creator><creator>Pinelli, Valentina</creator><creator>Savoldi, Gianfranco</creator><creator>Baiardi, Paola</creator><creator>Facchetti, Fabio</creator><creator>Gatta, Nuccia</creator><creator>Annesi-Maesano, Isabella</creator><creator>Balbi, Bruno</creator><general>Karger</general><general>S. 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blood</topic><topic>alpha 1-Antitrypsin - genetics</topic><topic>alpha 1-Antitrypsin - metabolism</topic><topic>alpha 1-Antitrypsin Deficiency - complications</topic><topic>alpha 1-Antitrypsin Deficiency - epidemiology</topic><topic>alpha 1-Antitrypsin Deficiency - genetics</topic><topic>Biological and medical sciences</topic><topic>Chromatography, High Pressure Liquid</topic><topic>Clinical Investigations</topic><topic>DNA Mutational Analysis</topic><topic>Errors of metabolism</topic><topic>Genetic disorders</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Testing</topic><topic>Humans</topic><topic>Italy - epidemiology</topic><topic>Life Sciences</topic><topic>Liver</topic><topic>Liver Diseases - epidemiology</topic><topic>Liver Diseases - etiology</topic><topic>Liver Diseases - genetics</topic><topic>Lung Diseases - epidemiology</topic><topic>Lung Diseases - etiology</topic><topic>Lung Diseases - genetics</topic><topic>Lungs</topic><topic>Male</topic><topic>Mass Screening</topic><topic>Medical sciences</topic><topic>Medical screening</topic><topic>Metabolic diseases</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Phenotype</topic><topic>Pneumology</topic><topic>Prevalence</topic><topic>Proteins and glycoproteins</topic><topic>Risk Factors</topic><topic>Santé publique et épidémiologie</topic><topic>Surveys and Questionnaires</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Corda, Luciano</creatorcontrib><creatorcontrib>Medicina, Daniela</creatorcontrib><creatorcontrib>La Piana, Giuseppe Emanuele</creatorcontrib><creatorcontrib>Bertella, Enrica</creatorcontrib><creatorcontrib>Moretti, Giovanni</creatorcontrib><creatorcontrib>Bianchi, Luca</creatorcontrib><creatorcontrib>Pinelli, Valentina</creatorcontrib><creatorcontrib>Savoldi, Gianfranco</creatorcontrib><creatorcontrib>Baiardi, Paola</creatorcontrib><creatorcontrib>Facchetti, Fabio</creatorcontrib><creatorcontrib>Gatta, Nuccia</creatorcontrib><creatorcontrib>Annesi-Maesano, Isabella</creatorcontrib><creatorcontrib>Balbi, Bruno</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Career & Technical Education Database</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><jtitle>Respiration</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Corda, Luciano</au><au>Medicina, Daniela</au><au>La Piana, Giuseppe Emanuele</au><au>Bertella, Enrica</au><au>Moretti, Giovanni</au><au>Bianchi, Luca</au><au>Pinelli, Valentina</au><au>Savoldi, Gianfranco</au><au>Baiardi, Paola</au><au>Facchetti, Fabio</au><au>Gatta, Nuccia</au><au>Annesi-Maesano, Isabella</au><au>Balbi, Bruno</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Population Genetic Screening for Alpha1-Antitrypsin Deficiency in a High-Prevalence Area</atitle><jtitle>Respiration</jtitle><addtitle>Respiration</addtitle><date>2011-01-01</date><risdate>2011</risdate><volume>82</volume><issue>5</issue><spage>418</spage><epage>425</epage><pages>418-425</pages><issn>0025-7931</issn><eissn>1423-0356</eissn><coden>RESPBD</coden><abstract>Background: Current guidelines for α1-antitrypsin deficiency (AATD) state that adult population screening should only be done in high-risk areas. Up-to-date genetic methods are always recommended. Objectives: To determine the prevalence of AATD in a suspected high-risk area by population screening, applying new genetic analyses and comparing the prevalence of liver and lung abnormalities in subjects with or without AATD. Methods: Adult residents of Pezzaze, a village in an Italian alpine valley, voluntarily participated in the screening, and were examined for: nephelometric α1-antitrypsin (AAT) serum level, DNA analysis (mutagenic polymerase chain reaction and restriction fragment length polymorphism tests for Z and S AATD causative mutations, and denaturing high-performance liquid chromatography and/or direct gene sequencing if needed), serum aspartate and alanine transaminases, a respiratory questionnaire and the Medical Research Council dyspnea index scale. The prevalence of AATD was compared with that expected in Italy (Hardy-Weinberg equilibrium), and transaminases and the prevalence of respiratory symptoms were compared between study groups. Results: Of 1,353 residents, 817 (60.4%) participated; 67 (8.2%) had low AAT serum levels (<90 mg/dl); 118 were carriers of AATD-associated alleles, 4 (0.5%) homozygotes or compound heterozygotes (1 Z, 1 S, 2 ZP brescia ), 114 (14%) heterozygotes (46 Z, 52 S, 9 P brescia , 4 M wurzburg , 2 I, 1 P lowell ). The prevalence and frequency of all AATD-related alleles was higher than expected for Italy (p < 0.001). There were no differences in symptoms of respiratory disease and transaminases between individuals with normal and low serum AAT. Conclusion: The screening design is one of the main strengths of this study. The large number of mostly asymptomatic individuals with AATD identified suggests that in high-risk areas adult population screening programs employing the latest genetic methods are feasible. Early recognition of individuals at risk means primary or secondary prevention measures can be taken.</abstract><cop>Basel, Switzerland</cop><pub>Karger</pub><pmid>21474916</pmid><doi>10.1159/000325067</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0002-6340-9300</orcidid><orcidid>https://orcid.org/0000-0001-8697-6896</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | alpha 1-Antitrypsin - blood alpha 1-Antitrypsin - genetics alpha 1-Antitrypsin - metabolism alpha 1-Antitrypsin Deficiency - complications alpha 1-Antitrypsin Deficiency - epidemiology alpha 1-Antitrypsin Deficiency - genetics Biological and medical sciences Chromatography, High Pressure Liquid Clinical Investigations DNA Mutational Analysis Errors of metabolism Genetic disorders Genetic Predisposition to Disease Genetic Testing Humans Italy - epidemiology Life Sciences Liver Liver Diseases - epidemiology Liver Diseases - etiology Liver Diseases - genetics Lung Diseases - epidemiology Lung Diseases - etiology Lung Diseases - genetics Lungs Male Mass Screening Medical sciences Medical screening Metabolic diseases Middle Aged Mutation Phenotype Pneumology Prevalence Proteins and glycoproteins Risk Factors Santé publique et épidémiologie Surveys and Questionnaires |
| title | Population Genetic Screening for Alpha1-Antitrypsin Deficiency in a High-Prevalence Area |
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