Background and objective: Essential hypertension (EH) is a complex phenotype that is affected by multiple genetic and environmental factors. Some authors have explored the role of genetic variability of the glutathione S-transferase (GST) enzymes in EH risk with contrasting results. In particular, our previous study investigated two GSTO common polymorphisms, but we did not find a significant outcome. The aim of this research was to analyze two GSTO1 uncommon variants (E155del and E208K) in 193 EH patients and 210 healthy controls.
Results: The genetic association analysis did not find significant outcome between GSTO1 uncommon variants and EH: both single-locus and haplotype investigations did not reach the statistical significance levels. Nevertheless, the correspondence analysis seems to highlight a difference between sexes: female EH patients seem to be more related to E155/del155 and E208/K208 genotypes than male patients.
Conclusions: Our studies confirm the lack of association between GSTO1 variants and EH risk, also for two uncommon genetic variants with large functional effects. However, our study highlighted some hypotheses (sex-specific marker, antioxidant function, arsenic metabolism, and modulation of inflammation processes) that might help to clarify the potential role of GSTO1 in EH pathophysiology.