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Characteristics of SAPALDIA follow-up participants belonging to the discoveryN1392and replication armN4245and of participants of the Copenhagen City Heart StudyN8273

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Forest plot of meta-analyzed results for the effect per minor allele of rs17580PI Son FEV1 in ever-smokersadjusted for sexageheight and population stratification factorsStudies 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 the fixed effect meta-analyses.

We present here the first GWAS on circulating AAT blood levelsOur results confirm that genetic variation in the SERPINA1 gene is a strong determinant of serum AAT levelsFine mapping of SERPINA1 and subsequent stepwise regression analyses further revealed that the associations with common variants in the SERPINA locus could be attributed to rarer variants previously identified to be causally linked with AAT deficiency.

Association of 1000 Genomes Imputed Data for the SERPINA Gene Cluster with AAT Serum Level.

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