Article

Pleiotropic effects of heterozygosity for the<i>SERPINA1</i>Z allele in the UK Biobank

2020-06-05

Abstract excerpt

Homozygosity for the SERPINA1 Z allele causes alpha-1 antitrypsin deficiency, a rare condition that can cause lung and liver disease. However, the effects of Z allele heterozygosity on non-respiratory phenotypes, and on lung function in the general population, remain unclear. We conducted the largest population-based study to date to determine Z allele effects on >2,400 phenotypes using the UK Biobank study (N>303...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5b62470b-5964-5015-b244-e94f14d25f1d
DOI: 10.1101/2020.06.04.20115923

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pleiotropic effects of heterozygosity for the<i>SERPINA1</i>Z allele in the UK BiobankDOI 10.1101/2020.06.04.20115923Read

Pleiotropic associations of heterozygosity for the SERPINA1 Z allele in the UK BiobankSemantic proximity Read

Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.Semantic proximity Read

A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.Semantic proximity Read

The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.Semantic proximity Read

The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes.Semantic proximity Read

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation SpectrumSemantic proximity Read

SERPINA1 Z allele is associated with cystic fibrosis liver diseaseSemantic proximity Read

Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.Semantic proximity Read

Danish children with ZZ-homozygous alpha-1 antitrypsin deficiency are more affected on liver parameters than children with heterozygosity.Semantic proximity Read

The prevalence of PI*S and PI*Z SERPINA1 alleles in healthy individuals and COPD patients in Saudi Arabia: A case-control study.Semantic proximity Read

Meta-Analysis: Redefining Liver Disease Risk in Heterozygous Alpha-1 Antitrypsin Deficiency.Semantic proximity Read

The prevalence of alpha-1 antitrypsin deficiency in Ireland.Semantic proximity Read