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Genetics of Complex Human Disease 2024
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Genetics of Complex Human Disease 2024

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

Deadline for manuscript submissions: 20 October 2024 | Viewed by 3096

Special Issue Editors

Dr. Jingyun Yang

E-Mail Website
Guest Editor
Rush Alzheimer’s Disease Center, Rush University Medical Center, Chicago, IL 60612, USA
Interests: Alzheimer's disease; genetic epidemiology; biostatistics; complex diseases/disorders; time-varying effect model
Special Issues, Collections and Topics in MDPI journals
Dr. Chuntao Zhao

E-Mail Website
Guest Editor
Brain Tumor Center, Cancer & Blood Diseases Institute, Cincinnati, OH, USA
Interests: neurogenesis; autism; chromatin remodeling; glia development; multiple sclerosis; brain tumor
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The vast majority of human diseases, including many congenital and adult-onset diseases, are complex diseases, such as Alzheimer’s disease (AD), Parkinson’s disease (PD), major depressive disorder (MDD), posttraumatic stress disorder (PTSD), and type 2 diabetes. The etiologies of complex diseases are multifocal, with contributions from genetic, environment, and lifestyle factors, and their interactions. Although previous research, such as genome-wide association studies (GWAS), epigenome-wide association studies (EWAS), and metabolome-wide association studies (MWAS), was successful in identifying novel loci underlying the pathogenesis of complex diseases, much remains to be explored to better understand the exact roles of genetic factors underlying the etiology of complex disease. Findings from genetic studies help to pinpoint potential therapeutic targets, identify informative biomarkers, and design effective preventive strategies.

In this Special Issue, we invite scientists from various fields of research to report their findings on genetics of different complex human diseases. We welcome different types of research articles, such as systematic reviews/meta-analyses, genetic epidemiology studies, basic research, or interesting case reports.

Dr. Jingyun Yang
Dr. Chuntao Zhao
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

  • genetics
  • epigenetics
  • complex diseases
  • genome-wide association studies
  • epigenome-wide association studies
  • metabolome-wide association studies
  • genetic variant
  • causal analysis

Published Papers (2 papers)

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Review

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25 pages, 2318 KiB  
Review
Genomics of Treatable Traits in Asthma
by Antonio Espuela-Ortiz, Elena Martin-Gonzalez, Paloma Poza-Guedes, Ruperto González-Pérez and Esther Herrera-Luis
Genes 2023, 14(9), 1824; https://doi.org/10.3390/genes14091824 - 20 Sep 2023
Cited by 1 | Viewed by 1412
Abstract
The astounding number of genetic variants revealed in the 15 years of genome-wide association studies of asthma has not kept pace with the goals of translational genomics. Moving asthma diagnosis from a nonspecific umbrella term to specific phenotypes/endotypes and related traits may provide [...] Read more.
The astounding number of genetic variants revealed in the 15 years of genome-wide association studies of asthma has not kept pace with the goals of translational genomics. Moving asthma diagnosis from a nonspecific umbrella term to specific phenotypes/endotypes and related traits may provide insights into features that may be prevented or alleviated by therapeutical intervention. This review provides an overview of the different asthma endotypes and phenotypes and the genomic findings from asthma studies using patient stratification strategies and asthma-related traits. Asthma genomic research for treatable traits has uncovered novel and previously reported asthma loci, primarily through studies in Europeans. Novel genomic findings for asthma phenotypes and related traits may arise from multi-trait and specific phenotyping strategies in diverse populations. Full article
(This article belongs to the Special Issue Genetics of Complex Human Disease 2024)
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9 pages, 4222 KiB  
Case Report
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis
by Hugo H. Abarca-Barriga, Renzo Punil Luciano and Flor Vásquez Sotomayor
Genes 2023, 14(12), 2212; https://doi.org/10.3390/genes14122212 - 14 Dec 2023
Viewed by 1186
Abstract
Cornelia de Lange syndrome is a genetic and clinically heterogeneous entity, caused by at least five genes. It is characterized by short stature, gestalt facies, microcephaly, neurodevelopmental disorders, and other anomalies. In this report, we present a 13-year-old female patient with microcephaly, cleft [...] Read more.
Cornelia de Lange syndrome is a genetic and clinically heterogeneous entity, caused by at least five genes. It is characterized by short stature, gestalt facies, microcephaly, neurodevelopmental disorders, and other anomalies. In this report, we present a 13-year-old female patient with microcephaly, cleft palate, polydactyly, short stature, triangular facies, frontal bossing, a bulbous nose, an overfolded helix, limited pronosupination, and an anomalous uterus. No neurodevelopmental disorders were reported. A chromosomal microarray analysis of 6.5 million markers was performed in the proband and her parents. The results showed a de novo heterozygous microdeletion of exons 9–14 within RAD21, which confirmed the diagnosis of Cornelia de Lange syndrome type 4. Our patient did not show any neurologic phenotype (until the time of diagnosis), although neurodevelopmental disorders are frequently present in patients with Cornelia de Lange syndrome type 4, and despite carrying a deletion that was larger than previously reported. Therefore, unknown genetic modifiers or intrinsic mechanisms of RAD21 variants may exist and should be studied. Full article
(This article belongs to the Special Issue Genetics of Complex Human Disease 2024)
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