Abstract:
With HIV (Human Immunodeficiency Virus) posing a continuous global challenge, ourstudy aimed
to investigate the diagnostic potential of the VDR gene variant rs746619116. Through studying
over 28,000 variants, we discovered three significant pathogenic missense mutations from which
rs746619116 was selected. The rs746619116 replaces arginine with tryptophan at position 154.
Using Project HOPE and DynaMut2, we found that this mutation leads to important structural
disruptions in the VDR protein, reducing its stability and functionality. Genetic studies revealed a
higher incidence vulnerability of the CT genotype among HIV-positive patients, indicating a
possible increase in susceptibility. Moreover, this genotype was associated with higher vitamin D
levels, platelet counts, and an elevated risk of thalassemia. Although promising, these findings
require further validation with more extensive and diverse populations.
