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Article

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

Nature communications - 15 Jul 2015

Setoh Kazuya, Terao Chikashi, Muro Shigeo, Kawaguchi Takahisa, Tabara Yasuharu, Takahashi Meiko, Nakayama Takeo, Kosugi Shinji, Sekine Akihiro, Yamada Ryo, Mishima Michiaki, Matsuda Fumihiko

Abstract excerpt

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...

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Source

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Identifiers

PMID: 26174136
DOI: 10.1038/ncomms8754
PMCID: PMC4518310

Genes

ALDH2
SERPINA1
GCKR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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