{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T23:06:23Z","timestamp":1776726383113,"version":"3.51.2"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,12,13]],"date-time":"2021-12-13T00:00:00Z","timestamp":1639353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fluoropyrimidines are chemotherapy drugs that may cause severe adverse events, and their metabolism occurs by dihydropyrimidine deydrogenase (DPD), coded by <jats:italic>DPYD<\/jats:italic>. Variants in the <jats:italic>DPYD<\/jats:italic> were associated to a greater risk of toxicity. Our aim was to determine the frequency of the most relevant <jats:italic>DPYD<\/jats:italic> alleles according to CPIC guidelines (<jats:italic>DPYD*2A<\/jats:italic>\u2010rs3918290, <jats:italic>DPYD*13<\/jats:italic>\u2010rs55886062, rs67376798, and HapB3\u2010rs75017182) in a sample of 800 healthy Southern Brazilians. Frequencies for rs3918290, rs75017182, and rs67376798 were 0.25%, 1.06%, and 0.38%, respectively. No rs55886062 allele was detected. In total, 3.4% of individuals were classified as intermediate metabolizers. Frequencies for rs3918290, rs55886062, and rs67376798 were similar to those found in non\u2010Finnish Europeans; however, rs75017182 was less frequent when compared to non\u2010Finnish Europeans, but more frequent than in Africans and East Asians. rs3918290 and rs67376798 also presented higher frequency when compared to Africans. The Latino population was the only one that did not differ from our sample in any variant analyzed. The frequencies for all the other populations (non\u2010Finnish European, African, South Asian, and East Asian) presented differences from our sample in at least one variant. rs115232898 was not analyzed in the present study. Cost\u2010effective studies should be performed to evaluate the implementation of these tests in the clinical practice in the Southern Brazil.<\/jats:p>","DOI":"10.1111\/ahg.12453","type":"journal-article","created":{"date-parts":[[2021,12,13]],"date-time":"2021-12-13T09:29:20Z","timestamp":1639387760000},"page":"102-107","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Frequency of <i>DPYD<\/i> gene variants and phenotype inference in a Southern Brazilian population"],"prefix":"10.1111","volume":"86","author":[{"given":"Mariana Rodrigues","family":"Botton","sequence":"first","affiliation":[{"name":"Department of Genetics Universidade Federal do Rio Grande do Sul  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Cells, Tissues and Genes Laboratory Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Hentschke\u2010Lopes","sequence":"additional","affiliation":[{"name":"Cells, Tissues and Genes Laboratory Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Post Graduation Program on Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ursula","family":"Matte","sequence":"additional","affiliation":[{"name":"Department of Genetics Universidade Federal do Rio Grande do Sul  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Cells, Tissues and Genes Laboratory Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Post Graduation Program on Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,12,13]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"Alves \u00cd. 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