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Founder effects were observed for 96% of pathogenic variants, with disease frequencies differing from other comparator populations. Key conditions included hereditary hemochromatosis, biotinidase deficiency, ichthyosis vulgaris/atopic dermatitis, and Fanconi anemia. Findings support genetic counseling, screening programs, and personalized preventive medicine to reduce inherited disease health 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genetic approach was used to study Mennonites in southern Brazil?","Question",{"text":63,"@type":64},"Whole-exome sequencing was performed on 325 volunteers from two Mennonite settlements in southern Brazil.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"How many pathogenic and likely pathogenic variants were identified?",{"text":68,"@type":64},"The study identified 23 pathogenic variants and 27 likely pathogenic variants.",{"name":70,"@type":61,"acceptedAnswer":71},"Which hereditary conditions showed the highest variant frequencies?",{"text":72,"@type":64},"HFE rs1800562 for hereditary hemochromatosis had the highest frequency, followed by BTD rs13078881 for biotinidase deficiency, FLG rs61816761 for ichthyosis vulgaris and atopic dermatitis, and FANCM rs147021911 for Fanconi 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Southern Brazil: Implications for Preventive Measures in Public Health  \nLuiza Beatriz Mayer de Lima1 | Eduardo Delabio Auer2 | Isabela Dall’Oglio Bucco2  | Valéria Bumiller-Bini Hoch2  | Priscila Ianzen dos Santos2 | Fabiana L. Lopes3 | Alan Shuldiner4 | Emilton Lima Júnior1 |  \nAngelica Beate Winter Boldt1,2   \n1Postgraduate Program in Internal Medicine, Federal University of Paraná (UFPR), Curitiba, Brazil | 2Laboratory of Human Molecular Genetics, Department of Genetics, Federal University of Paraná (UFPR), Curitiba, Brazil | 3Human Genetics Branch, National Institute of Mental Health, Bethesda, Maryland, USA | 4Regeneron Genetics Center, Tarrytown, New York, USA  \nCorrespondence: Angelica Beate Winter Boldt ([angelicaboldt@gmail.com](angelicaboldt@gmail.com))  \nReceived: 26 February 2025 | Revised: 17 July 2025 | Accepted: 21 July 2025  \nFunding: This work was supported by the Fundação Araucária, the Conselho Nacional de Desenvolvimento Científico e Tecnológico, the Empresa Brasileira de Serviços Hospitalares (EBSerH) (423317/2021-0), and the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior.  \nKeywords: BTD | FANCM | FLG | founder effect | HFE | Mennonites | monogenic diseases | precision medicine | whole exome sequencing  \nABSTRACT  \nThe Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three demographic bottlenecks, founder effects, inbreeding, epidemics, and migrations. To evaluate their susceptibility for monogenic diseases (MD), we performed whole-exome sequencing on 325 volunteers from two South Brazilian Mennonite settlements (one urban and another rural). We identified 23 pathogenic variants (P) and 27 likely P, with 22.8% accounting for endocrine, nutritional, and metabolic MDs, 17.5% for developmental anomalies, and 10.5% for nervous system MDs. HFE rs1800562 causing hereditary hemochromatosis presented the highest frequency (7.54%), followed by BTD rs13078881 for biotinidase deficiency (7.08%), FLG rs61816761 for ichthyosis vulgaris and atopic dermatitis (3.38%), and FANCM rs147021911 for Fanconi anemia (3.08%) . Genomic and genealogical analysis confirmed their European origin, with very low consanguinity and high heterozygosity coefficients, confirming a random selection of refugees that emigrated from widespread settlements in Russia to Brazil in 1930. There was also a slight deviation to Native Americans for self-reported admixed Mennonites. Even so, founder effects occurred for 96% of P, whose frequencies differed from non-Finnish Europeans, Amish, and Brazilian populations. These findings highlight the genetic risks in this population, reinforcing the importance of genetic counseling, screening programs, and Personalized and Preventive Medicine strategies to mitigate health risks associated with inherited conditions.  \n1 | Introduction  \nThe Mennonites represent the most complex group among Anabaptist populations, which also include the Amish and Hutterites. Anabaptism originated in Switzerland during the Protestant Reformation in the sixteenth century. Characterized by conscious baptism in adulthood, believers faced intense  \npersecution from the Church and the State [1–3]. Seeking refuge, many Anabaptists migrated to the Netherlands in the 1530s [2] . One particular group, under the leadership of Menno Simons, consolidated their identity as Mennonites, adopting pacifism as their central principle [1, 2]. They subsequently prospered for almost two centuries in Danzig, Prussia (now Gdánsk, Poland), migrating afterwards to the Ukraine between 1787 and 1796,  \n\n| Luiza Beatriz Mayer de Lima and Eduardo Delabio Auer contributed equally to this work. |\n| --- |\n| This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.\u003Cbr>","cbCainGVNKtaBSik","https://ap.wps.com/l/cbCainGVNKtaBSik","pdf",751053,11,"English","# Abstract\n## Introduction","[{\"question\":\"What genetic approach was used to study Mennonites in southern Brazil?\",\"answer\":\"Whole-exome sequencing was performed on 325 volunteers from two Mennonite settlements in southern Brazil.\"},{\"question\":\"How many pathogenic and likely pathogenic variants were identified?\",\"answer\":\"The study identified 23 pathogenic variants and 27 likely pathogenic variants.\"},{\"question\":\"Which hereditary conditions showed the highest variant frequencies?\",\"answer\":\"HFE rs1800562 for hereditary hemochromatosis had the highest frequency, followed by BTD rs13078881 for biotinidase deficiency, FLG rs61816761 for ichthyosis vulgaris and atopic dermatitis, and FANCM rs147021911 for Fanconi anemia.\"}]","Pathogenic Variants in Mennonites From Southern Brazil - Implications for Preventive Measures in Public Health | PDF",1790745212,28]