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Accuracy of 1000 Genomes based imputation in the SERPINA1 region in SAPALDIAN1392

Characteristics of study populations contributing to the SNP association analyses with FEV1.

AffiliationJames Hogg Research CentreInstitute for Heart and Lung HealthUniversity of British ColumbiaVancouverCanada.

Deficiency in the serine protease inhibitoralpha-1 antitrypsinAATis known to cause emphysema and liver diseaseOther manifestationsincluding airway disease or skin disordershave also been describedA 44-year-old woman presented to our emergency department with dyspnea and respiratory insufficiencyShe had never smokedand had been diagnosed with COPD 9 years earlierThree months previouslyshe had suffered a pulmonary embolismChest computed tomography scan revealed severe cystic bronchiectasis with destruction of the lung parenchymaThe sweat test was normal and there was no evidence of the cystic fibrosis transmembrane conductance regulatorCFTRmutationCapillary zone electrophoresis showed a decrease of alpha-1 globin band and AAT levels were below the quantification limit39 mgA/IIgE 46 IU/mLFEIA class 4indicative of possible allergic bronchopulmonary aspergillosisABPAPrick testing against common environmental antigenssuch as pollenhouse dust miteand animal hairwas negativeAn antinuclear antibody titer of 1:100 was notedbut extractable nuclear antigen screeningRNP/SmSmSS-ASS-BScl70CentBHo-1Rib-Pwas unremarkableAntineutrophil cytoplasmic antibodyANCAtesting was negativeA thrombophilia screenincluding factor V Leidenprothrombin gene mutationantithrombin 3proteins C and Sand lupus anticoagulant had been performed at the time of diagnosis and had revealed no abnormalities.

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