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In conclusionour study confirms the SERPINA1 locus as the major genetic determinant of AAT blood levelsMethodologicallyit represents a powerful example how low-frequent variantsseparated by several kilobases from the top-ranking GWAS signalscan create purely synthetic associations which do not add to the variance of the respective outcomeIn terms of lung functionour data do not support a functional role of any common SNP in the SERPINA cluster in the general population.
AffiliationsSwiss Tropical and Public Health InstituteBaselSwitzerlandUniversity of BaselBaselSwitzerlandWellcome Trust Centre for Human GeneticsUniversity of OxfordOxfordUnited Kingdom.
The study could not have been done without the help of the study participantstechnical and administrative support and the medical teams and field workers at the local study sites.
To be as close as possible to the calculations carried out in the original publication14multivariate linear regression models for lung function analyses were used adjusted for sexageheight and population stratification factorsif available
AffiliationDepartments of Health Sciences and GeneticsUniversity of LeicesterLeicesterUnited Kingdom.
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