Genetics and Pathways Underlying Chronic and Age-Related Disease

A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Genetics and Genomics".

Deadline for manuscript submissions: 30 November 2024 | Viewed by 1537

Special Issue Editor


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Guest Editor
Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK
Interests: genetics of chronic and age-related disease

Special Issue Information

Dear Colleagues,

Chronic and age-related diseases are important challenges facing healthcare providers. While there is an increasing understanding of the pathways that underlie ageing processes, and hence the susceptibility to disease, there are clearly pathways and variants that result in or contribute to the development of specific diseases. Some chronic diseases may simply be the result of cumulative damage, but it is clear that ageing can affect the development of disease, either directly or indirectly. To fully understand the effect of ageing and to identify potential pathways for intervention and disease treatment, we must study individual diseases as well as ageing itself. In this Special Issue, we will highlight patient and model studies investigating chronic and age-related disease, and their relationship to ageing.

Dr. Paul Potter
Guest Editor

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Keywords

  • disease

  • chronic
  • age-related
  • models
  • genetics
  • pathogenesis

Published Papers (1 paper)

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Research

12 pages, 1339 KiB  
Article
Common Variants rs429358 and rs7412 in APOE Gene Are Not Associated with POAG in a Saudi Cohort
by Altaf A. Kondkar, Tahira Sultan, Taif A. Azad, Tanvir Khatlani, Abdulaziz A. Alshehri, Essam A. Osman, Glenn P. Lobo, Faisal A. Almobarak and Saleh A. Al-Obeidan
Biology 2024, 13(1), 62; https://doi.org/10.3390/biology13010062 - 22 Jan 2024
Viewed by 1217
Abstract
Adult-onset glaucoma, an age-related neurodegenerative disease, is very prevalent among the elderly Arabs of Saudi origin. This study investigated the association between apolipoprotein E (APOE) gene variants (rs429358 and rs7412) and primary open-angle glaucoma (POAG) in Arabs of Saudi origin. A [...] Read more.
Adult-onset glaucoma, an age-related neurodegenerative disease, is very prevalent among the elderly Arabs of Saudi origin. This study investigated the association between apolipoprotein E (APOE) gene variants (rs429358 and rs7412) and primary open-angle glaucoma (POAG) in Arabs of Saudi origin. A case-control genetic association study involving 179 POAG patients and 251 controls utilized Sanger sequencing to genotype APOE gene variants. The allele frequencies and genotype distributions for rs429358 and rs7412 did not show significant associations with POAG. The haplotype analysis revealed apoε3 (87.6% and 87.4%) as the most prevalent, followed by ε4 (2.8% and 3.6%) and ε2 (9.6% and 8.9%) in the controls and POAG patients, respectively. Although the ε2/ε3 genotype and ε2-carriers displayed a more than two-fold increased risk, statistical significance was not reached. Notably, these polymorphisms did not affect clinical markers, such as intraocular pressure and cup/disc ratio. The logistic regression analysis demonstrated no significant influence of age, sex, rs429358, or rs7412 polymorphisms on POAG. In conclusion, within the Saudi cohort, APOE variants (rs429358 and rs7412) do not appear to be associated with POAG and are not substantial risk factors for its development. However, additional population-based studies are required to validate these findings. Full article
(This article belongs to the Special Issue Genetics and Pathways Underlying Chronic and Age-Related Disease)
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