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Genes
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Genetic Epidemiology of Human Complex Diseases
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Genetic Epidemiology of Human Complex Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (25 September 2023) | Viewed by 3415

Special Issue Editors

Dr. Angelica Beate Winter Boldt

E-Mail Website
Guest Editor
Associate Professor, Department of Genetics, Universidade Federal do Paraná, Caixa Postal 19071, Centro Politécnico, Jardim das Américas, Curitiba 81531-980, PR, Brazil
Interests: (epi)genetic susceptibility to complex diseases; immunogenetics; nutrigenetics; pharmacogenetics
Special Issues, Collections and Topics in MDPI journals
Dr. Gabriela Canalli Kretzschmar

E-Mail Website
Co-Guest Editor
Instituto de Pesquisa Pelé Pequeno Príncipe, Av. Silva Jardim, 1632 - Água Verde, Curitiba, PR 80250-060, Brazil
Interests: (epi)genetic susceptibility to cancer; infectious and neurodegenerative diseases; non-coding RNAS
Dr. Valéria Bumiller-Bini Hoch

E-Mail Website
Co-Guest Editor
Post-Doc, Post-Graduation Program in Genetics, Universidade Federal do Paraná, Caixa Postal 19071, Centro Politécnico, Jardim das Américas, Curitiba, PR, CEP 81531-980, Brazil
Interests: (epi)genetic susceptibility to autoimmune diseases; complement system; immunogenetics

Special Issue Information

Dear Colleagues,

Each human population possesses a unique set of (epi)genetic variants that interact with their specific environmental context. Their frequencies are the result of the evolutionary factors that accompany specific demographic histories, causing sometimes striking epidemiological differences. Unlike disease-associated transgenerational epigenetic variants, which are presumed to exist but are difficult to identify, a large number of disease-associated genetic variants are common and have already been cataloged, especially in populations of European and Asian origin. These advances were mainly achieved through large-scale genotyping and next-generation sequencing techniques using large sample sizes. However, polygenic risk scores do not explain much of the heritability of disease risk. Few of the rare variants with the greatest impact have been identified. The investigation of genetically isolated populations represents a viable alternative because of the historical founding effects that caused some initially very rare variants to drift to respectable frequencies. In addition, persistent epigenetic variants may be more easily identified in populations that share a culture and lifestyle over many generations.

Our goal is to publish papers describing the role of (epi)genetic architecture in susceptibility to complex diseases in different populations to establish susceptibility profiles that inform personalized and preventive medicine strategies in public health policies.

Dr. Angelica Beate Winter Boldt
Dr. Gabriela Canalli Kretzschmar
Dr. Valéria Bumiller-Bini Hoch
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetic epidemiology
  • founder effect
  • complex diseases
  • polymorphism
  • haplotype
  • epigenetics
  • non-Mendelian inheritance
  • polygenic risk score
  • GWAS
  • NGS

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Published Papers (1 paper)

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Research

16 pages, 1022 KiB  
Article
The Second Highest Prevalence of Celiac Disease Worldwide: Genetic and Metabolic Insights in Southern Brazilian Mennonites
by Luana Caroline Oliveira, Amanda Coelho Dornelles, Renato Mitsunori Nisihara, Estevan Rafael Dutra Bruginski, Priscila Ianzen dos Santos, Gabriel Adelman Cipolla, Stefanie Epp Boschmann, Iara José de Messias-Reason, Francinete Ramos Campos, Maria Luiza Petzl-Erler and Angelica Beate Winter Boldt
Genes 2023, 14(5), 1026; https://doi.org/10.3390/genes14051026 - 30 Apr 2023
Cited by 2 | Viewed by 2979
Abstract
Celiac disease (CD), despite its high morbidity, is an often-underdiagnosed autoimmune enteropathy. Using a modified version of the Brazilian questionnaire of the 2013 National Health Survey, we interviewed 604 Mennonites of Frisian/Flemish origin that have been isolated for 25 generations. A subgroup of [...] Read more.
Celiac disease (CD), despite its high morbidity, is an often-underdiagnosed autoimmune enteropathy. Using a modified version of the Brazilian questionnaire of the 2013 National Health Survey, we interviewed 604 Mennonites of Frisian/Flemish origin that have been isolated for 25 generations. A subgroup of 576 participants were screened for IgA autoantibodies in serum, and 391 participants were screened for HLA-DQ2.5/DQ8 subtypes. CD seroprevalence was 1:29 (3.48%, 95% CI = 2.16–5.27%) and biopsy-confirmed CD was 1:75 (1.32%, 95% CI = 0.57–2.59%), which is superior to the highest reported global prevalence (1:100). Half (10/21) of the patients did not suspect the disease. HLA-DQ2.5/DQ8 increased CD susceptibility (OR = 12.13 [95% CI = 1.56–94.20], p = 0.003). The HLA-DQ2.5 carrier frequency was higher in Mennonites than in Brazilians (p = 7 × 10−6). HLA-DQ8 but not HLA-DQ2.5 carrier frequency differed among settlements (p = 0.007) and was higher than in Belgians, a Mennonite ancestral population (p = 1.8 × 10−6), and higher than in Euro-Brazilians (p = 6.5 × 10−6). The glutathione pathway, which prevents reactive oxygen species-causing bowel damage, was altered within the metabolic profiles of untreated CD patients. Those with lower serological positivity clustered with controls presenting close relatives with CD or rheumatoid arthritis. In conclusion, Mennonites have a high CD prevalence with a strong genetic component and altered glutathione metabolism that calls for urgent action to alleviate the burden of comorbidities due to late diagnosis. Full article
(This article belongs to the Special Issue Genetic Epidemiology of Human Complex Diseases)
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