English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

Alpha-1 antitrypsin (AAT) encoded by  SERPINA1  is an acute-phase inflammation marker, and AAT deficiency (AATD) is known as one of the common genetic disorders in European populations. However, no genetic determinants to AAT levels apart from the  SERPINA  gene clusters have been identified to date. Here we perform a genome-wide association study of serum AAT levels followed by a two-staged replication study recruiting a total of 9,359 Japanese community-dwelling population. Three missense variants of metabolic syndrome-related genes, namely, rs671 in  ALDH2 , rs1169288 in  HNF1A  and rs1260326 in  GCKR , significantly associate with AAT levels ( P ≤1.5 × 10 −12 ). Previous reports have shown the functional relevance of  ALDH2  and  HNF1A  to AAT. We observe a significant interaction of rs671 and alcohol consumption on AAT levels. We confirm the association between AAT and rs2896268 in  SERPINA1 , which is independent of known causative variants of AATD. These findings would support various AAT functions including metabolic processes.

Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels