Alpha-1 Antitrypsin Deficiency PI[asterisk]Z and PI[asterisk]S Allele Frequency in a Direct-to-Consumer Genetic Database

Prevalence of Alpha-1 Antitrypsin Deficiency, Self-Reported Behavior Change, and Health Care Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report

“…We note that because of oversampling methodology, the prevalence of risk variants in this study is not representative of the general population. An earlier analysis of over 1.2 million individuals from the same 23andMe database 24 reported overall allele frequencies of 1.54% (PI*Z) and 3.68% (PI*S), and genotype frequencies of 0.026% (PI*ZZ) and 0.129% (PI*SZ), which resembles prior prevalence estimates. 25,26 Not surprisingly, AATD and other respiratory illnesses were more common among those with risk variants compared with those without; the prevalence of respiratory illness among those with the PI*SZ genotype was intermediate between those with PI*MM and PI*ZZ genotypes (Table 2, e-Table 3).…”