Exome Sequencing Reveals Immune Genes as Susceptibility Modifiers in Individuals with α₁-Antitrypsin Deficiency.

ABSTRACT: Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder associated to early onset emphysema, mainly imputable to Pi*ZZ genotype. In spite of the serious potential effects, many AATD individuals do not develop emphysema. To identify genes/variants potentially involved in emphysema development we studied 4 AATD families. Each family had at least one affected sibling with emphysema and one non-affected. Whole Exome Sequencing (WES) was performed on genomic DNA isolated from 9 individuals with AATD (4 affected/5 non-affected). Genetic variants confirmed at least in three families were prioritized using QueryOR and network analysis was used to verify enriched pathways. In affected subjects: 14 genes (57% immune-related) segregated in a recessive model and 21 (29% immune-related) in a domina

SUBMITTER: Rigobello C 

PROVIDER: S-EPMC6739380 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature