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标题：Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry
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作者：Margaret M. Parker ; Scott M. Damrauer ; Catherine Tcheandjieu 等
期刊名称：Scientific Reports
电子版ISSN：2045-2322
出版年度：2021
卷号：11
DOI：10.1038/s41598-021-91113-6
语种：English
出版社：Springer Nature
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