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Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant...
Schneider, Carolin V.; Hamesch, Karim; Gross, Annika; Mandorfer, Mattias; Moeller, Linda S.; Pereira, Vitor; Pons, Monica; Kuca, PawelHomozygosity for the Pi∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Europeans have the Pi∗MZ genotype; we compared features of adults with and without Pi∗MZ genotype among ...
Genetic and lifestyle risk factors for MRI-defined brain infarcts in a populati...
Chauhan, Ganesh; Adams, Hieab H.H.; Satizabal, Claudia L.; Bis, Joshua C.; Teumer, Alexander; Sargurupremraj, Muralidharan; Hofer, EdithObjective: To explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts. Methods: We performed meta-analyses of genome-wide association studies (GWAS) and examined associations of vascular risk factors and their genetic risk scores (GRS) with MRI-defined BI and a subset of BI, namely, small subcortical BI (SSBI), in 18 population-based cohorts (n = 20,949) f...