Causal and synthetic associations of variants in the SERPINA gene cluster with alpha1-antitrypsin serum levels.

doi:10.1371/journal.pgen.1003585

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Article

Causal and synthetic associations of variants in the SERPINA gene cluster with alpha1-antitrypsin serum levels.

PLoS genetics - 1 Jan 2013

Thun Gian Andri, Imboden Medea, Ferrarotti Ilaria, Kumar Ashish, Obeidat Ma'en, Zorzetto Michele, Haun Margot, Curjuric Ivan, Couto Alves Alexessander, Jackson Victoria E, Albrecht Eva, Ried Janina S, Teumer Alexander, Lopez Lorna M, Huffman Jennifer E, Enroth Stefan, Bossé Yohan, Hao Ke, Timens Wim, Gyllensten Ulf, Polasek Ozren, Wilson James F, Rudan Igor, Hayward Caroline, Sandford Andrew J, Deary Ian J, Koch Beate, Reischl Eva, Schulz Holger, Hui Jennie, James Alan L, Rochat Thierry, Russi Erich W, Jarvelin Marjo-Riitta, Strachan David P, Hall Ian P, Tobin Martin D, Dahl Morten, Fallgaard Nielsen Sune, Nordestgaard Børge G, Kronenberg Florian, Luisetti Maurizio, Probst-Hensch Nicole M

Abstract excerpt

Several infrequent genetic polymorphisms in the SERPINA1 gene are known to substantially reduce concentration of alpha1-antitrypsin (AAT) in the blood. Since low AAT serum levels fail to protect pulmonary tissue from enzymatic degradation, these polymorphisms also increase the risk for early onse...

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Identifiers

PMID: 23990791
DOI: 10.1371/journal.pgen.1003585
PMCID: PMC3749935

Genes

SERPINA1
MAF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23990791-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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