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Special Issues
Genetic Advances and Challenges in Complex Diseases
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Genetic Advances and Challenges in Complex Diseases

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

Deadline for manuscript submissions: closed (15 November 2024) | Viewed by 3033

Special Issue Editor

Dr. Tianxiao Huan

E-Mail Website
Guest Editor
1. Framingham Heart Study, Framingham, MA, USA
2. Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Bethesda, MD, USA
Interests: computational biology; cardiovascular diseases; age-related diseases; multi-omics; genetics; epigenetics; eQTL; network biology

Special Issue Information

Dear Colleagues,

Advances in genetic and genomic technologies have enabled the acquisition of multi-dimensional high-throughput data from both disease subjects and general populations. These advancements present new challenges and opportunities in developing and applying efficient methods to integrate diverse data types, ultimately revealing novel molecular mechanisms of complex human diseases.

This research topic focuses on advances and challenges in genetic and genomic studies of complex human diseases. We welcome all types of manuscripts, including original basic science research, review articles, methodology papers, translational research, and clinical studies. Topics of interest for this Special Issue include, but are not limited to, the following:

  • Next-generation sequencing, including targeted sequencing and whole-genome/exome sequencing analysis for complex human diseases and traits;
  • Multi-omics analysis (e.g., transcriptome, epigenome, proteome) of complex human diseases and traits;
  • Genetic and genomic association analysis and mendelian randomization analysis utilizing publicly funded big data resources, such as UK Biobank data;
  • Discovery of new common and rare variants of human diseases;
  • Functional studies to elucidate the molecular mechanisms of newly discovered or previously reported candidate genetic variants identified through genetic association studies;
  • New methods for data sharing, harmonization, and analytical approaches for integrating different data types;
  • Research using cutting-edge techniques, including single-cell sequencing methods.

Dr. Tianxiao Huan
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

  • genetics
  • omics
  • multi-omics
  • whole-genome sequencing
  • whole-exome sequencing
  • RNA-sequencing
  • GWAS
  • mendelian randomization
  • methylation
  • metabolites
  • proteomics
  • network
  • machine learning
  • deep learning

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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12 pages, 4208 KiB  
Article
Loss of ZC4H2, an Arthrogryposis Multiplex Congenita Associated Gene, Promotes Osteoclastogenesis in Mice
by Liang Zhu, Longlong Zhang, Jingmei Cha, Chaocui Li and Bingyu Mao
Genes 2024, 15(9), 1134; https://doi.org/10.3390/genes15091134 - 28 Aug 2024
Cited by 1 | Viewed by 1180
Abstract
ZC4H2 encodes a C4H2-type zinc finger protein, mutations of which lead to a spectrum of diseases known as ZC4H2 associated rare disorders (ZARD). In addition to neurological phenotypes, the most typical symptoms of ZARD are multiple joint contractures of varying degrees, accompanied [...] Read more.
ZC4H2 encodes a C4H2-type zinc finger protein, mutations of which lead to a spectrum of diseases known as ZC4H2 associated rare disorders (ZARD). In addition to neurological phenotypes, the most typical symptoms of ZARD are multiple joint contractures of varying degrees, accompanied by abnormal development of muscles and bones, and osteoporosis in some cases. The pathogenic mechanisms of such bone related phenotypes, however, remain unclear. Here, we showed that ZC4H2 is expressed in the developing bones in mice. ZC4H2 knockout mice were neonatal-lethal and smaller in size, with reduced calcification of long bones. Upon induced loss of ZC4H2 postnatally, the femoral bones developed an osteoporosis-like phenotype, with reduced bone mineral density, bone-volume fraction, and trabecular bone number. Knockdown of ZC4H2 showed no clear effect on the expression of osteogenic differentiation genes in in vitro models using mesenchymal stem cells. Interestingly, ZC4H2 knockdown significantly enhanced osteoclast differentiation and bone resorption in induced bone marrow-derived macrophages. We further confirmed that the number of osteoclasts in the long bone of ZC4H2 knockout mice was increased, as well as the expression of the serum bone resorption/osteoporosis marker CTX-1. Our study unveils a new role of ZC4H2 in osteoclast differentiation and bone development, providing new clues on the pathology of ZARD. Full article
(This article belongs to the Special Issue Genetic Advances and Challenges in Complex Diseases)
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Review

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22 pages, 1322 KiB  
Review
Genetic Etiology in Pelvic Organ Prolapse: Role of Connective Tissue Homeostasis, Hormone Metabolism, and Oxidative Stress
by Wenxuan Jiang, Rachel Yau Kar Cheung, Cheuk Yan Chung, Symphorosa Shing Chee Chan and Kwong Wai Choy
Genes 2025, 16(1), 5; https://doi.org/10.3390/genes16010005 - 24 Dec 2024
Viewed by 1138
Abstract
Background: Pelvic organ prolapse (POP) has become a common health problem among the aging population and affects an increasing number of elderly women worldwide. Studies within family and twin pairs provided strong evidence for the contribution of genetic factors to POP. Given [...] Read more.
Background: Pelvic organ prolapse (POP) has become a common health problem among the aging population and affects an increasing number of elderly women worldwide. Studies within family and twin pairs provided strong evidence for the contribution of genetic factors to POP. Given the incomplete penetrance, polygenic traits, and small effect sizes of each variant in complex diseases, it is not always easy to evaluate the genetic susceptibility and molecular mechanisms involved in POP. Objectives: This review intends to comprehensively summarize the current studies on genetic variants associated with POP. Methods: We performed a comprehensive review to summarize the genetic findings from genome-linkage studies, genome-wide association studies, candidate association studies, and gene expression analyses. Results: We summarized genetic variants associated with connective tissue homeostasis, hormone metabolism, and oxidative stress, which were potentially related to the pathophysiology of POP. We also reviewed the limited polygenic risk score (PRS) studies generated for each individual’s genetic risk stratification and its integration into clinical risk factors for disease prediction. Conclusions: This pooled analysis provides moderate epidemiological credibility for associations of these genetic variants with POP to bridge the gap between genetic research and clinical medicine towards understanding the genetic etiology of POP. It also highlights the potential of PRS as a risk prediction model. Full article
(This article belongs to the Special Issue Genetic Advances and Challenges in Complex Diseases)
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