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: closed (30 April 2024) | Viewed by 2173

Special Issue Editor


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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
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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

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Keywords

  • genetic diversity
  • variation
  • gene expression
  • SNP
  • population genetics

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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
Cited by 2 | Viewed by 1799
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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