摘要：Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed, progressively debilitating disease caused by mutations in the transthyretin (
TTR) gene. V122I, a common pathogenic
TTR mutation, is found in 3–4% of individuals of African ancestry in the United States and has been associated with cardiomyopathy and heart failure. To better understand the phenotypic consequences of carrying V122I, we conducted a phenome-wide association study scanning 427 ICD diagnosis codes in UK Biobank participants of African ancestry (
n = 6062). Significant associations were tested for replication in the Penn Medicine Biobank (
n = 5737) and the Million Veteran Program (
n = 82,382). V122I was significantly associated with polyneuropathy in the UK Biobank (odds ratio [OR
