Pleiotropic associations of heterozygosity for the SERPINA1 Z allele in the UK Biobank

Abstract excerpt

Homozygosity for the SERPINA1 Z allele causes α 1 -antitrypsin deficiency, a rare condition that can cause lung and liver disease. However, the effects of Z allele heterozygosity on nonrespiratory phenotypes, and on lung function in the general population, remain unclear. We conducted a large, population-based study to determine Z allele effects on >2400 phenotypes in the UK Biobank (N=303 353). Z allele...

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