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SAPALDIA was approved by the Swiss Academy of Medical Sciencesthe national ethics committee for clinical researchUREKProject Approval Number 123/00and the Cantonal Ethics Committees for each of the eight examination areasEthics commissions of the cantons AargauBaselGenevaGrisonsTicinoValaisVaud and ZurichParticipants were required to give written consent before any part of the health examination was conducted either globallyfor all health examinationsor separately for each investigationFor ethics statements of the additional studies contributing to this worksee Table S8.

Further variants in the SERPINA1 coding regionpresent in a SAPALDIA subsample with abnormally low AAT serum levelsN410

SAPALDIA study design for the determination of AAT associated genetic variantsa consisting of subjects with abnormally low AAT levels independent of PI S or Z allelessee Materials and Methods

Studies based on population isolates with a high degree of cryptic relatedness are presented separatelyEffect estimates of meta-analyses are shown with green diamondsI 2 is a measure of the heterogeneity between studiesRandom effect meta-analyses are included if I 20.5Study weightsblue squarescorrespond to fixed effect meta-analyses.

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