Abstract | 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.
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Authors | Renato Polimanti, Sara Piacentini, Natalia Lazzarin, Maria Antonietta Re, Dario Manfellotto, Maria Fuciarelli |
Journal | Genetic testing and molecular biomarkers
(Genet Test Mol Biomarkers)
Vol. 16
Issue 6
Pg. 615-20
(Jun 2012)
ISSN: 1945-0257 [Electronic] United States |
PMID | 22283150
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- GSTO1 protein, human
- Glutathione Transferase
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Topics |
- Female
- Gene Frequency
- Genotype
- Glutathione Transferase
(genetics)
- Haplotypes
- Humans
- Hypertension
(genetics)
- Italy
- Male
- Middle Aged
- Polymorphism, Genetic
- Sex Factors
- White People
(genetics)
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