RETRACTED ARTICLE: Single Nucleotide Polymorphisms in HIF-1A, VEGFa, and VHL Genes: A Comparative Study between Sea Level and High-Altitude Residents in West Saudi Arabia

Full Length Research Article 

RETRACTED ARTICLE: Single Nucleotide Polymorphisms in HIF-1A, VEGFa, and VHL Genes: A Comparative Study between Sea Level and High-Altitude Residents in West Saudi Arabia

Siraj B. Alharthi1, 3*, Ijtihed Kilani2, Abdullah Alsoliman3, Romar P. Pascual2, Mohamed H. Zainy1, Ahmed S Albariqi4, Yahya M. Alzahrani4, Ahmed Alshehri5, Ahmed M. El-Shehawi6, Hashim M. Borayk7, Mohamed Morsi M. Ahmed1, 8

Adv. life sci., vol. 11, no. 1, pp. 153-161, February 2024
*Corresponding Author: Siraj B. Alharthi (sirajj1411@gmail.com)
Authors' Affiliations

 1. Department of Biological Sciences, Faculty of Science, King Abdulaziz University · Jeddah – Saudi Arabia
2. Science Department, Shorouq Al Mamlakah International School · Taif – Saudi Arabia
3. Molecular Diagnostic Unit, Al Hada Armed Forces Hospital · Taif – Saudi Arabia
4. Genetics Department, Al Hada Armed Forces Hospital · Taif – Saudi Arabia
5. Genetics Department, King Faisal Medical Complex · Taif – Saudi Arabia
6. Department of Biotechnology, College of Science, Taif University · Taif – Saudi Arabia
7. Medical Laboratory, King Fahad Armed Forces Hospital · Jeddah – Saudi Arabia
8. Department of Nucleic Acids Research, Genetic Engineering and Biotechnology, Research Institute (GEBRI) · Alexandria – Egypt 
 
[Date Received: 04/10/2023; Date Revised: 25/01/2024; Date Published: 25/02/2024]


Abstractaa download_button
Introduction
Methods
Results

Discussion
References 


Abstract

Background: This comprehensive molecular study investigates the genetic variations in individuals residing at different altitudes in West Saudi Arabia, specifically contrasting sea-level residents in Jeddah (SL) with high-altitude dwellers in Taif (HA). The study focuses on the significant role of genetic adaptations in response to environmental challenges, particularly hypoxia. Understanding these genetic differences according to geographical location is crucial for multiple reasons. It not only sheds light on the adaptive mechanisms that humans develop in response to environmental stressors like reduced oxygen levels but also has broader implications for medical, anthropological, and evolutionary studies. By exploring how distinct populations adapt to their environments, this research provides valuable insights into the complex interplay between genetics, health, and disease, highlighting the importance of considering genetic diversity in medical and genetic research.

Methods: The research involved amplifying and sequencing three pivotal genes associated with hypoxia adaptation: Hif-1a, VEGFa, and VHL. Advanced genomic techniques were utilized to analyze samples from 22 volunteers, 10 from the sea level region of Jeddah and 12 from the high-altitude region of Taif. The study aimed to identify and analyze single nucleotide polymorphisms (SNPs) in these genes and their implications in altitude adaptation.

Results: Distinct SNPs were identified in the Hif-1a, VEGFa, and VHL genes, with high-altitude residents displaying more pronounced variations. The phylogenetic analysis demonstrated clear genetic clustering based on altitude, highlighting the molecular adaptations induced by altitude variations. The study reveals a complex interplay between genetics and environmental conditions, significantly contributing to our understanding of human adaptation to high altitudes.

Conclusion: This research underscores the profound impact of altitude on human genetics. The findings provide critical insights into how genetic variations facilitate adaptation to challenging environmental conditions, such as hypoxia, encountered at high altitudes. These insights have broad implications, potentially informing medical research related to altitude sickness and other altitude-related health issues.

Keywords: High-Altitude Adaptation; Single Nucleotide Polymorphisms (SNPs); Hif-1a Gene; VEGFa Gene; VHL Gene; Phylogenetic Analysis; Saudi Arabian Populations  

Retraction Note

27 Nov 2025: The Editor-in-Chief has approved retraction of this article on the following grounds.

The paper's "Methods" section is in direct contradiction with its "Results" section.

• The methods section explicitly states that four genes were targeted for analysis: Hif-1α, Vegfa, Epas, and Vhl. This is reinforced by Table 1, which lists the primers for all four genes, including EPAS1.

• The "Results" section, "Abstract," "Title," and "Keywords" completely omit any mention of the EPAS1 gene. No data, figures, or discussion are provided for this gene, despite it being a stated part of the experimental design.

The paper's "Results" section is internally contradictory, presenting multiple, different locations for the same genetic findings.

• The paper claims the SNP is at position 226 , then later in a summary list at position 35 , and Table 2 lists it at position 260 .
• The paper claims the SNP is at position 515 , but a later summary claims it is at position 424.
• The paper claims the SNP is a C>T change , but a later summary claims it is a G>A change.
The data is critically and irreconcilably corrupted. It is impossible to know what the findings of the study actually were.

The authors have not responded to the retraction notice.

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