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

ABSTRACT: Homozygosity for the SERPINA1 Z allele causes α₁-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 heterozygosity was strongly associated with increased height (β=1.02 cm, p=3.91×10^-68), and with other nonrespiratory phenotypes including increased risk of gall bladder disease, reduced risk of heart disease and lower blood pressure, reduced risk of osteoarthritis and reduced bone mineral density, increased risk of headache and enlarged prostate, as well as with

SUBMITTER: Fawcett KA 

PROVIDER: S-EPMC8107350 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature