{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T23:06:00Z","timestamp":1776726360709,"version":"3.51.2"},"reference-count":26,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:sec>\n            <jats:title>Objectives<\/jats:title>\n            <jats:p>To explore the distribution of clinically relevant <jats:italic toggle=\"yes\">UGT1A1<\/jats:italic> polymorphisms and inferred UGT1A1 phenotypes in two Indigenous groups (Paiter-Suru\u00ed and Yanomami) from reservation areas in the Brazilian Amazon.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Ninety-two Yanomami and 88 Paiter-Suru\u00ed were genotyped with a validated panel of ancestry informative markers. Individuals with &gt;90% Native ancestry were genotyped for the promoter TA repeat (rs8175347) polymorphism and <jats:italic toggle=\"yes\">UGT1A1*6<\/jats:italic> (rs4148323) by direct sequencing, and for <jats:italic toggle=\"yes\">UGT1A1*80<\/jats:italic> (rs887829) by TaqMan allele discrimination. The UGT1A1 metabolic phenotypes were inferred from <jats:italic toggle=\"yes\">UGT1A1<\/jats:italic> diplotypes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>All Yanomami and 85 (96.6%) Paiter-Suru\u00ed had &gt;92% Native ancestry. <jats:italic toggle=\"yes\">UGT1A1<\/jats:italic> genotype data from these individuals revealed: (i) the absence of both alleles with five and eight TA repeats [TA(5) and TA(8)]; (ii) TA(7) allele frequency of 0.470 in Yanomami and 0.441 in Paiter-Suru\u00ed; (iii) rs4148323 was absent in Paiter-Suru\u00ed and detected in two Yanomami (frequency 0.012); (iv) a perfect linkage disequilibrium (LD) between rs887829C&gt;T and the promoter repeat polymorphisms in both cohorts: C allele with TA(6) and T allele with TA(7). The distribution of the inferred UGT1A1 metabolizer phenotypes did not differ between cohorts (Paiter-Suru\u00ed and Yanomami): the intermediate metabolizer was the most common (50.6\u201355.4%), followed by the normal (30.6\u201324.1%) and the slow (18.8\u201320.5%) phenotypes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>This is the first report on the frequency distribution of clinically relevant <jats:italic toggle=\"yes\">UGT1A1<\/jats:italic> variants and inferred UGT1A1 metabolic phenotypes in two major Native populations from indigenous reservation areas in the Brazilian Amazon, namely the Paiter-Suru\u00ed and Yanomami. The TA(5) and TA(8) repeats were absent, whereas TA(7) was common (frequency &gt;0.50) in both cohorts. The intronic rs887829 variant (<jats:italic toggle=\"yes\">UGT1A1<\/jats:italic>*<jats:italic toggle=\"yes\">80<\/jats:italic>) single nucleotide variant was found in perfect LD with the promoter TA repeats. The rs4148323 SNP was absent (Paiter-Suru\u00ed) or rare (Yanomami). The frequency of high-risk UGT1A1 poor metabolizer phenotype was 1.6- to 2-fold higher in the indigenous cohorts compared to nonindigenous Brazilians.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/fpc.0000000000000566","type":"journal-article","created":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T12:00:15Z","timestamp":1745582415000},"page":"153-158","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["UGT1A1 polymorphisms and metabolic phenotypes in indigenous peoples from the Brazilian Amazon"],"prefix":"10.1097","volume":"35","author":[{"given":"Jamila A.","family":"Perini","sequence":"first","affiliation":[{"name":"Laborat\u00f3rio de Pesquisa de Ci\u00eancias Farmac\u00eauticas (LAPESF), Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro, Brazil"}]},{"given":"Alessandra S.","family":"Dias","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Diagn\u00f3stico por DNA, 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