Association Between P582S HIF-1A Gene Polymorphism And Hematological Parameters Among Healthy People In The Northern Districts Of The West Bank-Palestine. رسالة ماجستير

Abstract

Background: More than 60 genes responded to Hypoxia-inducible factor 1-alpha (HIF-1α) as a vital regulator of transcription for a huge number of cellular processes, such as angiogenesis, erythropoiesis, iron metabolism, and oxygen balancing. Variations in the HIF-1α gene, primarily the P582S (rs11549465) polymorphism, have been associated with alterations in gene expression, protein stability, and an increased risk for various disorders, including different types of cancers and hematological diseases (Haase, 2013; Weidemann & Johnson, 2008a). Objectives: The purpose of this study was to investigate whether there was any association between the P582S HIF-1A Gene Polymorphism and Hematological Parameters among healthy people in the Northern Districts of the West Bank-Palestine, as well as to determine any demographic and clinical characteristics that might be linked to this genetic variance. Methods: 100 people were recruited in this cross-sectional study. CBC, followed by PCR-RFLP technology, was used to genotype the HIF-1A polymorphism. Sanger sequencing was conducted to confirm the PCR-RFLP results. SPSS and Python were used to perform statistical analysis. To evaluate relationships between HIF-1A polymorphism and hematological parameters, chi-square tests, and one-way ANOVA. A 0.05 level of significance was used. Results: The mean age of participants was 31.4 years, and the mean BMI was 24.9 ± 3.46 kg/m2. Most of the participants did not exercise (81.0%), and about 18.0% were current tobacco smokers. Frequency of 582S (T) mutant allele was 47.0% while the frequency of the 582P (C) wild-type allele was 53.0%. No association was found between P582S HIF-1A and hemoglobin level (p=0.56), red blood cell count (p=0.62), hematocrit (p=0.16), mean cell volume (p=0.32), mean corpuscular volume (p=0.68), mean corpuscular hemoglobin concentration (p=0.62), and red blood cell distribution width (p=0.89).Furthermore, there were no apparent differences in the V distribution of P582S genotypes by participant age, body mass index, smoking status, or exercise routine (p>0.05). Conclusions: In conclusion, hematological indices in healthy individuals may not be correlated with the P582S HIF-1A polymorphism. To validate this conclusion, more research in different populations is required.