SNPs of the PSMA6 gene: Investigation of possible association with myocardial infarction and type 2 diabetes mellitus

Sjakste, Tatjana; Poudziunas, I.; Ninio, Ewa; Perret, Claire; Pīrāgs, Valdis; Nicaud, Viviane; Lazdins, M.; Evans, Alun; Morrison, Caroline; Cambien, François; Sjakste, Nikolajs

doi:10.1134/s102279540704014x

Cited by 18 publications

(32 citation statements)

References 29 publications

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“…This low prevalence may explain its lack of association with disease in our population. Furthermore, apart from the genotype ‐8C/G (SNP rs1048990) itself, Sjakste and colleagues (Sjakste et al, 2007b) also described an association of a haplotype C‐110/G‐8 of the PSMA6 gene with a higher risk for DM2. In our study, rs1048990 was not associated with DM2, or any other confounding factor, possibly pointing to inter‐ethnic differences with respect to its impact as a risk for cardiovascular‐related disorders, in general.…”

Section: Discussionmentioning

confidence: 91%

“…The variations in the reported impact of the studied SNPs on cardiovascular disease may pertain to a variety of factors. Firstly, although the linkage of this chromosomal region with both cardiovascular‐related (Ozaki et al, 2006; Sjakste et al, 2007b; Barbieri et al, 2008) and other diseases (Kamnasaran et al, 2003; Sjakste et al, 2004) in general has been discussed primarily with respect to the PSMA6 polymorphism, it should be noted that some of the associated SNPs reside on the KIAA0391 gene. To our knowledge, however, virtually no evidence is currently available in the literature directly implicating this gene in CAD.…”

Section: Discussionmentioning

confidence: 99%

“…This proteasome is a large multicatalytic proteinase that functions as a central switch within the cell by selectively degrading a multitude of proteins, including metabolic enzymes, transcription factors and cell cycle regulators (Rivett, 1989; Maki et al, 1996; Dimmeler et al, 1999; Salghetti et al, 1999; Karin & Delhase, 2000). Not surprisingly therefore, the proteasomal alpha subunit type 6 gene ( PSMA6 ), a component of the ubiquitin‐proteasome system has been associated with MI (Ozaki et al, 2006; Barbieri et al, 2008), type 2 diabetes mellitus (DM2) (Sjakste et al, 2007b), greater intima‐media thickness (Takashima et al, 2007), and possibly atherosclerosis (Takashima et al, 2007). On the other hand, its role in conferring risk for cardiovascular‐related events in general has been called into question recently by a number of studies pointing to lack of association with these disorders in some ethnic groups (Sjakste et al, 2007b; Takashima et al, 2007; Banerjee et al, 2008; Bennett et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

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Haplotypes Encompassing the KIAA0391 and PSMA6 Gene Cluster Confer a Genetic Link for Myocardial Infarction and Coronary Artery Disease

Alsmadi

Muiya

Khalak

et al. 2009

Annals of Human Genetics

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SummaryThe role of the KIAA0391 and PSMA6 genes in predisposing individuals to disease is still not fully understood. We evaluated by molecular beacon-based genotyping assays the roles of five single nucleotide polymorphisms (SNPs) in the chromosomal region 14q13.2 harbouring the KIAA0391 and PSMA6 gene cluster in coronary artery disease (CAD) in the Saudi population. Two of the studied SNPs rs8008319 (denoted as 1) and rs7157492 (2), reside in the KIAA0391 locus, two others rs1048990 (3) and rs12878391 (4) -2G-3C-4A-5G [0.20(0.03-139); p = 0.073], showed a similar but weaker trend. Our study identified haplotypes in the chromosomal region encompassing the KIAA0391 and PSMA6 genes as a possible genetic link between CAD and MI. These results also suggest that haplotypes may be more informative than individual SNPs in identifying risk factors for disease.

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Haplotypes Encompassing the KIAA0391 and PSMA6 Gene Cluster Confer a Genetic Link for Myocardial Infarction and Coronary Artery Disease

Alsmadi

Muiya

Khalak

et al. 2009

Annals of Human Genetics

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“…So far there are six other replication studies including that by Ozaki et al, 7 and five of them except for Ozaki's replication study failed to replicate the significant association of PSMA6 À8C4G with CAD. [11][12][13][14][15] Therefore, we performed a meta-analysis of the data obtained in this study for the Japanese and Korean populations and the data in the previous replication studies. As shown in Figure 1, the association was found to be modest with a statistical significance (OR¼1.08, 95% CI; 1.02-1.14, P¼0.0057).…”

Section: Resultsmentioning

confidence: 99%

Replication studies for the association of PSMA6 polymorphism with coronary artery disease in East Asian populations

et al. 2009

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Coronary artery disease (CAD) has become a major health problem in many countries because of its increasing prevalence and high mortality. Recently, an association of a functional sequence variation, À8C4G, in the human proteasome subunit a type 6 gene (PSMA6) with the susceptibility to CAD was reported. To validate the association, we investigated a total of 1330 cases and 2554 controls from Japanese and Korean populations for PSMA6 genotypes, and no evidence of the association was obtained in both Japanese (odds ratio (OR)¼1.03, 95% confidence interval (CI); 0.90-1.19, P¼0.66, allele count model) and Korean populations (OR¼1.00, 95% CI; 0.86-1.17, P¼0.95, allele count model). However, when a meta-analysis of data from this study and previously reported six replication studies was done, OR was 1.08 for the G allele (95% CI; 1.02-1.14, P¼0.0057), suggesting that the contribution of PSMA6 to CAD was not large enough to be readily replicated. Further studies are required to establish the contribution of this variant in the susceptibility to CAD.

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“…We determined modifications of proteasomal protein Psma6 mRNA expression levels in rat kidneys and blood under diabetes mellitus (DM) and treatment with 1,4‐DHPs. The Psma6 gene was chosen for the study, as polymorphisms of its human analogue were shown to be associated with DM and cardiovascular diseases and expression of the Psma6 protein was reported to be modified in diabetic rats. The gene encodes one of proteasome core proteins, and its expression should reflect expression of proteasomes in general.…”

Section: Introductionmentioning

confidence: 99%

1,4‐Dihydropyridine derivatives without Ca2+‐antagonist activity up‐regulate Psma6 mRNA expression in kidneys of intact and diabetic rats

Ošiņa

Rostoka

Sokolovska

et al. 2015

Cell Biochemistry & Function

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Impaired degradation of proteins by the ubiquitin-proteasome system (UPS) is observed in numerous pathologies including diabetes mellitus (DM) and its complications. Dysregulation of proteasomal degradation might be because of altered expression of genes and proteins involved in the UPS. The search for novel compounds able to normalize expression of the UPS appears to be a topical problem. A novel group of 1,4-dihydropyridine (1,4-DHP) derivatives lacking Ca2+-antagonists activities, but capable to produce antidiabetic, antioxidant and DNA repair enhancing effects, were tested for ability to modify Psma6 mRNA expression levels in rat kidneys and blood in healthy animals and in rats with streptozotocin (STZ) induced DM. Psma6 gene was chosen for the study, as polymorphisms of its human analogue are associated with DM and cardiovascular diseases. 1,4-DHP derivatives (metcarbatone, etcarbatone, glutapyrone, J-9-125 and AV-153-Na) were administered per os for three days (0.05 mg/kg and/or 0.5 mg/kg). Psma6 gene expression levels were evaluated by quantitative PCR. Psma6 expression was higher in kidneys compared to blood. Induction of diabetes caused increase of Psma6 expression in kidneys, although it was not changed in blood. Several 1,4-DHP derivatives increased expression of the gene both in kidneys and blood of control and model animals, but greater impact was observed in kidneys. The observed effect might reflect coupling of antioxidant and proteolysis-promoting activities of the compounds.

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SNPs of the PSMA6 gene: Investigation of possible association with myocardial infarction and type 2 diabetes mellitus

Cited by 18 publications

References 29 publications

Haplotypes Encompassing the KIAA0391 and PSMA6 Gene Cluster Confer a Genetic Link for Myocardial Infarction and Coronary Artery Disease

Haplotypes Encompassing the KIAA0391 and PSMA6 Gene Cluster Confer a Genetic Link for Myocardial Infarction and Coronary Artery Disease

Replication studies for the association of PSMA6 polymorphism with coronary artery disease in East Asian populations

1,4‐Dihydropyridine derivatives without Ca2+‐antagonist activity up‐regulate Psma6 mRNA expression in kidneys of intact and diabetic rats

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