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Molecular Risk Factors of Complex Diseases
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Molecular Risk Factors of 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 (31 March 2021) | Viewed by 14901

Special Issue Editor

Dr. Natalia Wawrusiewicz-Kurylonek

E-Mail Website
Guest Editor
Department of Clinical Genetics, Medical University of Białystok, Białystok, Poland
Interests: molecular factors of complex and autoimmune diseases; molecular genetics; pharmacogenetics

Special Issue Information

Dear Colleagues,

Complex diseases (multifactorial diseases) are diseases with a strong genetic component and a defined background of environmental factors. Complex diseases form a large group of disorders, with particular emphasis on civilization diseases and autoimmune diseases, which are highly problematic in modern medicine. The most characteristic features of complex diseases include the lack of the standard Mendelian patterns of inheritance and the broad spectrum of common candidate genes that may be genetic risk factors for these diseases. A strong genetic component in complex diseases is visible in occurrences inside of families and in the studies of monozygotic twins. Defining the molecular background of this group of diseases taking into account population differences may be important to improving diagnostic procedures and defining risk groups and may influence the individualization of treatment (pharmacogenetics) and a determination on prognosis. The high population prevalence of complex diseases is, therefore, the main motivation for the search for genetic and environmental components of their etiology.

This Special Issue of Genes on “Molecular Risk Factors of Complex Diseases” will be dedicated to researchers who are looking to confirm the genetic background of multifactorial diseases. It aims to review and discuss the latest research in this field and assist with the take-up of new ideas and research directions.

Dr. Natalia Wawrusiewicz-Kurylonek
Guest Editor

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

  • multifactorial diseases
  • genetic background
  • single nucleotide variants
  • susceptibility regions in genomes
  • candidate genes
  • potential molecular risk factors

Published Papers (5 papers)

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Research

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12 pages, 1870 KiB  
Article
COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction
by Bartosz Dalewski, Katarzyna Kaczmarek, Anna Jakubowska, Kamila Szczuchniak, Łukasz Pałka and Ewa Sobolewska
Genes 2021, 12(5), 690; https://doi.org/10.3390/genes12050690 - 05 May 2021
Cited by 7 | Viewed by 2157
Abstract
Temporomandibular disorders (TMDs) may affect up to 25% of the population, with almost 70% of these TMD cases developing malpositioning of the disc over time in what is known as internal derangement (ID). Despite significant efforts, the molecular mechanism underlying disease progression is [...] Read more.
Temporomandibular disorders (TMDs) may affect up to 25% of the population, with almost 70% of these TMD cases developing malpositioning of the disc over time in what is known as internal derangement (ID). Despite significant efforts, the molecular mechanism underlying disease progression is not yet very well known. In this study, the role of COL12A1 rs970547 and rs240736 polymorphisms as potential genetic factors regulating ID was investigated. The study included 124 Caucasian patients of both sexes after disc displacement without reduction (DDwoR) in either one or two temporomandibular joints (TMJs), either of which meet the criteria for this condition. All patients underwent clinical examination and 3D digital imaging. The COL12A1 rs970547 and rs240736 polymorphisms were evaluated. There were no statistically significant differences in the chi-square test between the study group and healthy controls. The examined COL12A1 rs240736 and rs970547 polymorphisms do not contribute to DDwoR in Polish Caucasians. Full article
(This article belongs to the Special Issue Molecular Risk Factors of Complex Diseases)
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19 pages, 8322 KiB  
Article
Imputation and Reanalysis of ExomeChip Data Identifies Novel, Conditional and Joint Genetic Effects on Parkinson’s Disease Risk
by Linduni M. Rodrigo and Dale R. Nyholt
Genes 2021, 12(5), 689; https://doi.org/10.3390/genes12050689 - 04 May 2021
Cited by 7 | Viewed by 2997
Abstract
Given that improved imputation software and high-coverage whole genome sequence (WGS)-based haplotype reference panels now enable inexpensive approximation of WGS genotype data, we hypothesised that WGS-based imputation and analysis of existing ExomeChip-based genome-wide association (GWA) data will identify novel intronic and intergenic single [...] Read more.
Given that improved imputation software and high-coverage whole genome sequence (WGS)-based haplotype reference panels now enable inexpensive approximation of WGS genotype data, we hypothesised that WGS-based imputation and analysis of existing ExomeChip-based genome-wide association (GWA) data will identify novel intronic and intergenic single nucleotide polymorphism (SNP) effects associated with complex disease risk. In this study, we reanalysed a Parkinson’s disease (PD) dataset comprising 5540 cases and 5862 controls genotyped using the ExomeChip-based NeuroX array. After genotype imputation and extensive quality control, GWA analysis was performed using PLINK and a recently developed machine learning approach (GenEpi), to identify novel, conditional and joint genetic effects associated with PD. In addition to improved validation of previously reported loci, we identified five novel genome-wide significant loci associated with PD: three (rs137887044, rs78837976 and rs117672332) with 0.01 < MAF < 0.05, and two (rs187989831 and rs12100172) with MAF < 0.01. Conditional analysis within genome-wide significant loci revealed four loci (p < 1 × 10−5) with multiple independent risk variants, while GenEpi analysis identified SNP–SNP interactions in seven genes. In addition to identifying novel risk loci for PD, these results demonstrate that WGS-based imputation and analysis of existing exome genotype data can identify novel intronic and intergenic SNP effects associated with complex disease risk. Full article
(This article belongs to the Special Issue Molecular Risk Factors of Complex Diseases)
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23 pages, 772 KiB  
Article
Prediction of Early Childhood Caries Based on Single Nucleotide Polymorphisms Using Neural Networks
by Katarzyna Zaorska, Tomasz Szczapa, Maria Borysewicz-Lewicka, Michał Nowicki and Karolina Gerreth
Genes 2021, 12(4), 462; https://doi.org/10.3390/genes12040462 - 24 Mar 2021
Cited by 14 | Viewed by 2433
Abstract
Background: Several genes and single nucleotide polymorphisms (SNPs) have been associated with early childhood caries. However, they are highly age- and population-dependent and the majority of existing caries prediction models are based on environmental and behavioral factors only and are scarce in infants. [...] Read more.
Background: Several genes and single nucleotide polymorphisms (SNPs) have been associated with early childhood caries. However, they are highly age- and population-dependent and the majority of existing caries prediction models are based on environmental and behavioral factors only and are scarce in infants. Methods: We examined 6 novel and previously analyzed 22 SNPs in the cohort of 95 Polish children (48 caries, 47 caries-free) aged 2–3 years. All polymorphisms were genotyped from DNA extracted from oral epithelium samples. We used Fisher’s exact test, receiver operator characteristic (ROC) curve and uni-/multi-variable logistic regression to test the association of SNPs with the disease, followed by the neural network (NN) analysis. Results: The logistic regression (LogReg) model showed 90% sensitivity and 96% specificity, overall accuracy of 93% (p < 0.0001), and the area under the curve (AUC) was 0.970 (95% CI: 0.912–0.994; p < 0.0001). We found 90.9–98.4% and 73.6–87.2% prediction accuracy in the test and validation predictions, respectively. The strongest predictors were: AMELX_rs17878486 and TUFT1_rs2337360 (in both LogReg and NN), MMP16_rs1042937 (in NN) and ENAM_rs12640848 (in LogReg). Conclusions: Neural network prediction model might be a substantial tool for screening/early preventive treatment of patients at high risk of caries development in the early childhood. The knowledge of potential risk status could allow early targeted training in oral hygiene and modifications of eating habits. Full article
(This article belongs to the Special Issue Molecular Risk Factors of Complex Diseases)
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Review

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13 pages, 610 KiB  
Review
Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update
by Katarzyna Wertheim-Tysarowska, Grzegorz Oracz and Agnieszka Magdalena Rygiel
Genes 2021, 12(5), 785; https://doi.org/10.3390/genes12050785 - 20 May 2021
Cited by 6 | Viewed by 4381
Abstract
Chronic pancreatitis (CP) is a progressive, irreversible inflammatory disorder of the pancreas, which results from interrelations between different genetic and environmental factors. Genetic variants are the primary cause of the disease in early-onset nonalcoholic CP patients. Novel CP-associated genes are continuously emerging from [...] Read more.
Chronic pancreatitis (CP) is a progressive, irreversible inflammatory disorder of the pancreas, which results from interrelations between different genetic and environmental factors. Genetic variants are the primary cause of the disease in early-onset nonalcoholic CP patients. Novel CP-associated genes are continuously emerging from genetic studies on CP cohorts, providing important clues for distinct mechanisms involved in CP development. On the basis of functional studies, the genetic alterations have been sub-grouped into CP-driving pathological pathways. This review focuses on the concept of CP as a complex disease driven by multiple genetic factors. We will discuss only well-defined genetic risk factors and distinct functional pathways involved in CP development, especially in the context of the early-onset nonalcoholic CP group. The diagnostic implications of the genetic testing will be addressed as well. Full article
(This article belongs to the Special Issue Molecular Risk Factors of Complex Diseases)
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13 pages, 403 KiB  
Review
Strategies to Improve the Clinical Outcomes for Direct-to-Consumer Pharmacogenomic Tests
by Alireza Tafazoli, Rama Krishna Guggilla, Zahra Kamel-Koleti and Wojciech Miltyk
Genes 2021, 12(3), 361; https://doi.org/10.3390/genes12030361 - 03 Mar 2021
Cited by 6 | Viewed by 2295
Abstract
Direct-to-consumer genetic tests (DTC-GT) have become a bridge between marketing and traditional healthcare services. After earning FDA endorsement for such facilities, several fast-developing companies started to compete in the related area. Pharmacogenomic (PGx) tests have been introduced as potentially one of the main [...] Read more.
Direct-to-consumer genetic tests (DTC-GT) have become a bridge between marketing and traditional healthcare services. After earning FDA endorsement for such facilities, several fast-developing companies started to compete in the related area. Pharmacogenomic (PGx) tests have been introduced as potentially one of the main medical services of such companies. Most of the individuals will be interested in finding out about the phenotypic consequences of their genetic variants and molecular risk factors against diverse medicines they take or will take later. Direct-to-consumer pharmacogenomic tests (DTC-PT) is still in its young age, however it is expected to expand rapidly through the industry in the future. The result of PGx tests could be considered as the main road toward the implementation of personalized and precision medicine in the clinic. This narrative critical review study provides a descriptive overview on DTC-GT, then focuses on DTC-PT, and also introduces and suggests the potential approaches for improving the clinical related outcomes of such tests on healthcare systems. Full article
(This article belongs to the Special Issue Molecular Risk Factors of Complex Diseases)
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