Genetic variants associated with myocardial infarction in the <scp><i>PSMA6</i></scp> gene and <scp>C</scp>hr9p21 are also associated with ischaemic stroke

Heckman, Michael G.; Soto‐Ortolaza, Alexandra I.; Diehl, Nancy N.; Rayaprolu, Sruti; Brott, Thomas G.; Wszołek, Zbigniew K.; Meschia, James F.; Ross, Owen A.

doi:10.1111/j.1468-1331.2012.03846.x

Cited by 28 publications

(29 citation statements)

References 32 publications

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“…The functional −8 G/C polymorphism in PSMA6 gene was earlier reported to be associated with several human diseases—type 2 diabetes, myocardial infarction and coronary artery disease [9, 16, 18, 23]. Our study was designed to address the potential involvement of the PSMA6 gene polymorphism for the first time in chronic kidney failure.…”

Section: Discussionmentioning

confidence: 99%

Association between functional variant of inflammatory system gene (PSMA6) and end-stage kidney disease

et al. 2016

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BackgroundThe proteasome system is involved in several disorders. The 5′ untranslated region of PSMA6 gene contains a single nucleotide polymorphism (SNP) −8 C/G, associated with diabetes, myocardial infarction and coronary artery disease.MethodsWe examined 584 patients with end-stage kidney disease (ESKD) and 430 controls. All were genotyped for −8 C/G SNP by polymerase chain reaction and restriction analysis.ResultsWe observed lower frequency of CG + GG genotypes in patients than in controls (20 vs. 42 %, p = 0.0038). The odds ratio of 0.34 (95 % CI 0.26–0.45) suggests association of CG + GG with decreased risk of ESKD. We investigated the association between PSMA6 polymorphism and LVH present in 54 % of patients. There was a significant association of CG + GG genotype with LVH, with over 75 % of CG + GG in patients with LVH. This effect was independent from other common causes of LVH—age (OR 1.12, p = 0.643) and hypertension (OR 1.72, p = 0.422).ConclusionWe demonstrated for the first time that PSMA6 polymorphism might be a protective factor for ESKD. On the other hand, CG + GG genotypes are independently related to LVH in ESKD patients.

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Section: Discussionmentioning

confidence: 99%

Association between functional variant of inflammatory system gene (PSMA6) and end-stage kidney disease

et al. 2016

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“…Among the 7 million stroke population in China, 75% have sequelae of physical mobility, along with a growing economic burden upon both family and the entire society 1) . Approximately half of the strokes can be explained CI or carotid plaque susceptibility in the Chinese Han population, we selected six SNPs on 9p21 (rs10757278, rs1333049, rs2383206, rs1537378, rs4977574, and rs2383207) that had been validated well in AS from large cohorts 11,[21][22][23][24] .…”

Section: Introductionmentioning

confidence: 99%

Variants on Chromosome 9p21 Confer Risks of Noncardioembolic Cerebral Infarction and Carotid Plaque in the Chinese Han Population

Zhang

Maimaiti

et al. 2015

JAT

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Aims:Considering that cerebral infarction (CI) may share a common etiological basis with coronary artery disease (CAD), we evaluated six CAD-related single-nucleotide polymorphisms (SNPs) on 9p21 for investigating the effect of 9p21 on CI or carotid plaque in the Chinese Han population. Methods: Altogether, 528 patients with noncardioembolic CI (375 with carotid plaque and 153 without carotid plaque) and 258 control subjects were genotyped. Six SNPs previously shown to be associated with CAD were sequenced and assessed for association with CI and carotid plaque using odds ratio (OR) and 95% confidence interval (CI) from logistic regression models. Results: The G allele frequencies of rs2383206 (OR 1.472, p 0.021) and rs4977574 (OR 1.519, p 0.013) significantly increased in patients with CI without carotid plaque compared with middleaged patients in the control group. The CI risk was higher among the GG genotype carriers than among GA AA genotype carriers (OR 1.794, 95% CI 1.059 -3.039, p 0.030 for rs2383206; OR 1.866, 95% CI 1.088 -3.201, p 0.023 for rs4977574). In comparison with the non-GG genotype, the GG genotype of rs2383206 and rs4977574 combined had a 1.733-fold greater risk of CI in the middle-aged group. SNPs rs2383206 and rs4977574 were also associated with a risk of carotid plaque among patients with CI aged 65 years (OR 2.329, p 0.018 and OR 1.997, p 0.049, respectively). Moreover, six SNPs were strongly correlated with linkage disequilibrium. Conclusions: Genetic variations of rs2383206 and rs4977574 on 9p21 are potentially associated with CI and carotid plaque in the Chinese Han population. Our results provide further evidence that the 9p21 region represents a major risk locus for cerebrovascular diseases.

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“…There are several possible reasons for such differences. In fact, the frequencies of the risk-association alleles in chromosome 9p21 are similar in European and East Asian populations, but substantially lower in African descent [22], [27], [37], [38]. Thus, failing to identify any significant association in African populations could be due to substantially lower statistical power caused by the relatively lower prevalence of the risk allele.…”

Section: Discussionmentioning

confidence: 99%

Association between 9p21 Genomic Markers and Ischemic Stroke Risk: Evidence Based on 21 Studies

Zhang

2014

PLoS ONE

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Epidemiological studies indicate a genetic contribution to ischemic stroke risk, but specific genetic variants remain unknown. Recently independent studies reported an association between coronary heart disease and single-nucleotide polymorphisms (SNPs) located at chromosome 9p21 (rs10757278 and proxy SNPs). Given that stroke is a common complication after myocardial infarction, several validation studies have been conducted among various ethnic populations to investigate if the same loci was associated with ischemic stroke (IS), but the results have been inconsistent. To investigate this inconsistency and derive a more precise estimation of the relationship, a meta-analysis of 34,128 cases and 153,428 controls from 21 studies was performed. Potential sources of heterogeneity including ethnicity, sample size, control source and ischemic stroke subtypes were also assessed. Overall, the summary odds ratio of IS was 1.11 (95% CI: 1.07–1.15, P<10−5) for rs10757278. In the subgroup analysis by ethnicity, significantly increased risks were found in East Asians (3188 cases and 4503 controls; OR = 1.14, 95% CI: 1.07–1.21, P<10−5) and Caucasians (30505 cases and 145153controls; OR = 1.08, 95% CI: 1.04–1.12, P<10−5) for the polymorphism; while no significant associations were found among African Americans (435 cases and 3772 controls; OR = 0.97, 95% CI: 0.63–1.51, P = 0.90) in all genetic models. In the subgroup analyses by IS subtypes, significant association was detected only in large vessel stroke group, while no significant associations among small vessel or cardioembolic stroke. When stratified by sample size, and control source, significantly increased risks were found for the polymorphism in all genetic models. This meta-analysis provides accurate and comprehensive estimates of the association of genetic variant at chromosome 9p21 and IS, but these associations vary in different ethnic populations.

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Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke

Cited by 28 publications

References 32 publications

Association between functional variant of inflammatory system gene (PSMA6) and end-stage kidney disease

Association between functional variant of inflammatory system gene (PSMA6) and end-stage kidney disease

Variants on Chromosome 9p21 Confer Risks of Noncardioembolic Cerebral Infarction and Carotid Plaque in the Chinese Han Population

Association between 9p21 Genomic Markers and Ischemic Stroke Risk: Evidence Based on 21 Studies

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