title: Association of promoter methylation and 32-bp deletion of the PTEN gene with susceptibility to metabolic syndrome.
abstract: Metabolic syndrome (MeS), a cluster of several metabolic disorders, is increasingly being recognized as a risk factor for type II diabetes (T2D) and cardiovascular disease. Genetic and epigenetic alteration of the phosphatase and tensin homolog deleted on chromosome ten (PTEN) has been associated with components of MeS. The aim of the present study was to investigate the possible association of a 32-bp deletion polymorphism and promoter methylation of the PTEN gene with MeS. DNA was extracted from the peripheral blood of 151 subjects with and 149 subjects without MeS. The 32-bp deletion variant of PTEN was detected by polymerase chain reaction (PCR) and PTEN promoter methylation was defined by a nested methylation‑specific PCR (MSP) method. No significant differences were found in the allelic and genotypic frequencies of the 32-bp deletion variant of PTEN between the groups [odds ratio (OR), 0.77; 95% confidence interval (CI), 0.41-1.45; P=0.431]. However, patients with MeS were identified to have lower levels of PTEN promoter hypermethylation than subjects without MeS. Promoter methylation may be a protective factor against susceptibility to MeS (OR, 0.52; 95% CI, 0.29-0.92; P=0.029). Our findings suggest that PTEN promoter methylation may be a mechanism for PTEN downregulation or silencing in MeS, which remains to be fully clarified.
authors.affiliation: Cellular and Molecular Research Center, Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran. mhd.hashemi@gmail.com
authors.forename: Mohammad
authors.initials: M
authors.lastname: Hashemi
authors.forename: Hamzeh
authors.initials: H
authors.lastname: Rezaei
authors.forename: Ebrahim
authors.initials: E
authors.lastname: Eskandari-Nasab
authors.forename: Mahmoud-Ali
authors.initials: MA
authors.lastname: Kaykhaei
authors.forename: Mohsen
authors.initials: M
authors.lastname: Taheri
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D019175:DNA Methylation; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D024821:Metabolic Syndrome / Q000235:genetics*; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D016017:Odds Ratio; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D011401:Promoter Regions, Genetic; D017384:Sequence Deletion
chemical_list: D051059:PTEN Phosphohydrolase