Publication: SIRT1 Gene Polymorphisms Affect the Protein Expression in Cardiovascular Diseases
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Date
2014-02-28
Authors
KILIC, Ulkan
GOK, Ozlem
Bacaksiz, AHMET
IZMIRLI, Muzeyyen
Elibol-Can, BİRSEN
Uysal, Omer
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Abstract
Cardiovascular disease (CVD), the leading cause of death worldwide, is related to gene-environment interactions due to
epigenetic factors. SIRT1 protein and its downstream pathways are critical for both normal homeostasis and protection from
CVD-induced defects. The aim of this study was to investigate the association between SIRT1 single nucleotide
polymorphisms (SNPs) (rs7895833 A.G in the promoter region, rs7069102 C.G in intron 4 and rs2273773 C.T in exon 5
silent mutation) and SIRT1 and eNOS (endothelial nitric oxide synthase) protein expression as well as total antioxidant status
(TAS), total oxidant status (TOS) and oxidative stress index (OSI) in CVD patients as compared to controls. The frequencies of
mutant genotypes and alleles for rs7069102 and rs2273773 were significantly higher in patients with CVD compared to
control group. The risk for CVD was increased by 2.4 times for rs7069102 and 1.9 times for rs2273773 in carriers of mutant
allele compared with carriers of wild-type allele pointing the protective role of C allele for both SNPs against CVD. For
rs7895833, there was no significant difference in genotype and allele distributions between groups. SIRT1 protein, TAS, TOS
and OSI levels significantly increased in patients as compared to control group. In contrast, level of eNOS protein was
considerably low in the CVD patients. An increase in the SIRT1 expression in the CVD patients carrying mutant genotype for
rs7069102 and heterozygote genotype for all three SNPs was observed. This is the first study reporting an association
between SIRT1 gene polymorphisms and the levels of SIRT1 and eNOS expressions as well as TAS, TOS and OSI
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Citation
KILIC U., GOK O., Bacaksiz A., IZMIRLI M., Elibol-Can B., Uysal O., -SIRT1 Gene Polymorphisms Affect the Protein Expression in Cardiovascular Diseases-, PLOS ONE, cilt.9, 2014