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Biomedicines
Special Issues
Phenotypic Consequences of Human Genetic Diversity
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Phenotypic Consequences of Human Genetic Diversity

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Gene and Cell Therapy".

Deadline for manuscript submissions: 30 April 2024 | Viewed by 868

Special Issue Editor

Dr. Mahmut Cerkez Ergoren

E-Mail Website
Guest Editor
Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia 99138, Cyprus
Interests: rare disease; population genetics and diversity; molecular medicine; mutation databases; precise medicine; genome editing
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Over the past 15 years, studies on human genetics have unveiled remarkable discoveries in genomic medicine while elucidating the diverse genomic structure across various populations. I aspire to contribute to the expanding repository of documented genomic variants that impact human phenotypes at both DNA and RNA levels.

This Special Issue will serve as an open access platform to address the aforementioned concerns by presenting original research articles and reviews focused on exploring the phenotypic consequences of human genetic diversity. I welcome studies of diverse designs (e.g., GWAS, gene expression, SNP studies, variant discoveries, population genetic studies) conducted in this field.

Dr. Mahmut Cerkez Ergoren
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. Biomedicines 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 diversity
  • variation
  • gene expression
  • SNP
  • population genetics

Published Papers (1 paper)

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Research

11 pages, 753 KiB  
Article
APOE Gene Variation’s Impact on Cardiovascular Health: A Case-Control Study
by Aya Badeea Ismail, Özlem Balcıoğlu, Barçın Özcem and Mahmut Çerkez Ergoren
Biomedicines 2024, 12(3), 695; https://doi.org/10.3390/biomedicines12030695 - 21 Mar 2024
Viewed by 628
Abstract
Chronic venous insufficiency (CVI) is a common medical condition characterized by impaired functioning of the venous system in the lower extremities. It leads to various symptoms, including varicose veins, leg edema, and skin pigmentation. It is believed that a combination of genetic and [...] Read more.
Chronic venous insufficiency (CVI) is a common medical condition characterized by impaired functioning of the venous system in the lower extremities. It leads to various symptoms, including varicose veins, leg edema, and skin pigmentation. It is believed that a combination of genetic and environmental factors affect the development of CVI. The APOE gene is of particular interest in this context, as it plays a role in lipid metabolism and inflammation. The ε4 allele (rs429358) has been associated with an increased risk of Alzheimer’s disease, while the ε2 allele (rs7412) has shown a protective effect against Alzheimer’s disease but a strong association with cardiovascular inflammation. This research aimed to investigate the presence of APOE gene variants in individuals with chronic venous insufficiency disease and validate the relationship between this gene and cardiovascular diseases. The study analyzed the expression of APOE gene variants in varicose vein tissue samples from patients and a normal vein in the control group. The results indicated no significant expression of the ε4 allele in either group. However, there was a significant decrease in the expression of the ε2 allele in the patient group. Additionally, a negative correlation was observed between the two single nucleotide polymorphisms (SNPs) in vein tissue. The lower expression of the ε2 allele in patients suggests a potentially reduced risk of cardiovascular disease in these individuals. Consequently, there appears to be a weaker association between the expression of the APOE gene ε2 allele and cardiovascular diseases. Full article
(This article belongs to the Special Issue Phenotypic Consequences of Human Genetic Diversity)
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