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We present here an agnostic investigation of genetic determinants of circulating AAT levels in a general population sample by performing a genome-wide association studyGWASin 1392 individuals of the SAPALDIA cohort.
AffiliationDepartment of Internal Medicine BUniversity Medicine GreifswaldGreifswaldGermany.
Other SERPINA1 gene mutations lead to the production of an abnormally small form of alpha-1 antitrypsin that is quickly broken down in the liverAs a resultlittle or no alpha-1 antitrypsin is available in the lungsWhile the liver remains healthy in individuals with these mutationsthe lungs are left unprotected from neutrophil elastase.
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