A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease.

doi:10.1002/hep.21979

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease.

Hepatology (Baltimore, Md.) - 1 Jan 2008

Chappell Sally, Hadzic Nedim, Stockley Robert, Guetta-Baranes Tamar, Morgan Kevin, Kalsheker Noor

Abstract excerpt

UNLABELLED: Alpha(1)-antitrypsin deficiency (AATD) due to homozygosity of the protease inhibitor (Pi) Z variant predisposes to childhood liver disease and pulmonary emphysema. About 10% of all neonates with AATD develop liver disease, and about 3% overall progress to severe disease. AATD is a principal genetic indication for liver transplantation in children. The liver pathology is associated with accumulation of...

Topics

Adult
Aged
Aged, 80 and over
Female
Genotype
Humans
Infant
Infant, Newborn
Liver Diseases
Male
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
Pulmonary Disease, Chronic Obstructive
Risk Factors
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

Source

Open in PubMed

Identifiers

PMID: 17972336
DOI: 10.1002/hep.21979

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics