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V122I, a common pathogenic\n                    <jats:italic>TTR<\/jats:italic>\n                    mutation, is found in 3\u20134% 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                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20096062). Significant associations were tested for replication in the Penn Medicine Biobank (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20095737) and the Million Veteran Program (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200982,382). V122I was significantly associated with polyneuropathy in the UK Biobank (odds ratio [OR]\u2009=\u20096.4, 95% confidence interval [CI] 2.6\u201315.6,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20094.2\u2009\u00d7\u200910\n                    <jats:sup>\u22125<\/jats:sup>\n                    ), which was replicated in the Penn Medicine Biobank (OR\u2009=\u20091.6, 95% CI 1.2\u20132.4,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20096.0\u2009\u00d7\u200910\n                    <jats:sup>\u20133<\/jats:sup>\n                    ) and Million Veteran Program (OR\u2009=\u20091.5, 95% CI 1.2\u20131.8,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20091.8\u2009\u00d7\u200910\n                    <jats:sup>\u22124<\/jats:sup>\n                    ). Polyneuropathy prevalence among V122I carriers was 2.1%, 9.0%, and 4.8% in the UK Biobank, Penn Medicine Biobank, and Million Veteran Program, respectively. The cumulative incidence of common hATTR amyloidosis manifestations (carpal tunnel syndrome, polyneuropathy, cardiomyopathy, heart failure) was significantly enriched in V122I carriers compared with non-carriers (HR\u2009=\u20092.8, 95% CI 1.7\u20134.5,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20092.6\u2009\u00d7\u200910\n                    <jats:sup>\u22125<\/jats:sup>\n                    ) in the UK Biobank, with 37.4% of V122I carriers having at least one of these manifestations by age 75. Our findings show that V122I carriers are at increased risk of polyneuropathy. These results also emphasize the underdiagnosis of disease in V122I carriers with a significant proportion of subjects showing phenotypic changes consistent with hATTR amyloidosis. Greater understanding of the manifestations associated with V122I is critical for earlier diagnosis and treatment.\n                  <\/jats:p>","DOI":"10.1038\/s41598-021-91113-6","type":"journal-article","created":{"date-parts":[[2021,6,2]],"date-time":"2021-06-02T06:08:04Z","timestamp":1622614084000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry"],"prefix":"10.1038","volume":"11","author":[{"given":"Margaret M.","family":"Parker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott M.","family":"Damrauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Tcheandjieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Erbe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emre","family":"Aldinc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip N.","family":"Hawkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian D.","family":"Gillmore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leland E.","family":"Hull","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie A.","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Joseph","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simina","family":"Ticau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander O.","family":"Flynn-Carroll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimee M.","family":"Deaton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas D.","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Themistocles L.","family":"Assimes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip S.","family":"Tsao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyong-Mi","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel J.","family":"Rader","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Fitzgerald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akshay K.","family":"Vaishnaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory","family":"Hinkle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Nioi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,6,2]]},"reference":[{"issue":"1","key":"91113_CR1","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1007\/s11897-013-0182-4","volume":"11","author":"M Hanna","year":"2014","unstructured":"Hanna, M. 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Epidemiol."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-91113-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-91113-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-91113-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,3]],"date-time":"2022-12-03T04:15:14Z","timestamp":1670040914000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-91113-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,2]]},"references-count":39,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["91113"],"URL":"https:\/\/doi.org\/10.1038\/s41598-021-91113-6","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2020.11.10.20219675","asserted-by":"object"}]},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,2]]},"assertion":[{"value":"8 February 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 June 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"M.M.P., D.E., E.A., S.T., K.F., A.K.V., and A.O.F.-C. are employees and stockholders of Alnylam Pharmaceuticals. A.M.D., L.D.W., and P.N. are employees and stockholders of Alnylam Pharmaceuticals and former employees of Amgen Inc. G.H. is an employee and stockholder of Alnylam Pharmaceuticals, reports personal fees from 54gene, and has a patent US8168775B2 issued. S.M.D. reports grants from U.S. Department of Veterans Affairs and RenalytixAI, and personal fees from Calico Labs. P.N.H. reports personal fees from Alnylam Pharmaceuticals. J.D.G. reports grants and personal fees from Alnylam Pharmaceuticals, and personal fees from Akcea and Eidos Therapeutics. J.A.L. is an employee with the federal government, Department of Veterans Affairs, and has received grants from the Department of Veteran Affairs. J.J. has received research grants from U.S. Department of Veteran Affairs Office of Research and Development, Novartis, Kowa, Otsuka, and Amgen. P.S.T. reports grants from U.S. Department of Veteran Affairs Office of Research and Development. K.-M.C. is an employee with the Federal Government, Department of Veterans Affairs, has research funding from the Department of Veteran Affairs, and serves on the scientific advisory board for Arbutus, Inc. D.J.R. reports personal fees from Alnylam Pharmaceuticals, Novartis, and Pfizer. C.T., L.E.H., and T.L.A. have nothing to disclose.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"11645"}}