THERAPEUTIC CLASS
SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children
Fifteen to twenty percent of alpha-1
antitrypsin deficiency patients
(A1ATD) have a severe liver outcome (portal hypertension -PHT)
during childhood.
Since they all share the same ZZ SERPINA1 genotype and that environmental
factors such as alcohol cannot be advanced, the presence of modifier genes is now
well recognized. SNPs located on the SERPINA1 and MAN1B1 genes have already
been tested in very few studies with contradictory or not replicated results
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