A genome-wide association study-derived candidate gene seeks replication: STK39

Persu, Alexandre; Vikkula, Miikka

doi:10.1097/hjh.0b013e328344b6b3

Cited by 3 publications

(2 citation statements)

References 25 publications

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“…The comprehensive literature search identified a total of 80 potentially relevant papers, of which 70 papers were excluded because of obvious irrelevance after reading the title and/or abstract. One paper was excluded because it examined the association between STK39 SNP and salt-sensitive hypertension [24]; another paper was excluded because it was an editorial comment [25]. Finally, 8 papers met the primary inclusion criteria, of which 3 papers were further excluded because they examined the association between STK39 SNP and BP only [9], [14], [26].…”

Section: Resultsmentioning

confidence: 99%

STK39 Polymorphism Is Associated with Essential Hypertension: A Systematic Review and Meta-Analysis

Chen

Chandak

et al. 2013

PLoS ONE

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BackgroundA recent genome-wide association study identified STK39as a candidate gene for blood pressure (BP) in Europeans. Subsequently, several studies have attempted to replicate the association across different ethnic populations. However, the results have been inconsistent.Objective and MethodsWe performed a meta-analysis to elucidate the association between the STK39 rs3754777 polymorphism (or proxy) and hypertension. Published literature from PubMed and Embase databases were retrieved and pooled odds ratio (OR) with 95% confidence interval (CI) was calculated using fixed- or random-effects model.ResultsUsing appropriate inclusion/exclusion criteria, we identified 10 studies that included 21, 863 hypertensive cases and 24, 480 controls from different ethnicities. The meta-analysis showed a significant association of STK39 rs3754777 variant with hypertension (OR = 1.10, 95%CI = 1.06–1.15, p = 7.95×10−6). Further subgroup analysis by ethnicity suggested that the association was significant in Europeans (OR = 1.08, 95% CI = 1.03–1.14, p = 0.002) and in East Asians (OR = 1.16, 95%CI = 1.07–1.25, p = 4.34×10−4), but not in Africans (OR = 1.01, 95%CI 0.80–1.27, p = 0.932). We further confirmed the positive association by sensitivity analysis. No publication bias was detected (Begg’s test, p = 0.721; Egger’s test, p = 0.744).ConclusionsThe present meta-analysis confirms the significant association of STK39 polymorphism with susceptibility to hypertension in Europeans and East Asians. Future studies should include gene–gene and gene–environment interactions to investigate the identified association.

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Section: Resultsmentioning

confidence: 99%

STK39 Polymorphism Is Associated with Essential Hypertension: A Systematic Review and Meta-Analysis

Chen

Chandak

et al. 2013

PLoS ONE

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“…Indeed, variations in the STK39 gene have been implicated in hypertension in the Amish population through genome-wide association, with the resulting non-coding mutations increasing the allelic expression of SPAK (Wang et al, 2009a). This association, however, has failed to reach significance in other populations (Cunnington et al, 2009; Persu and Vikkula, 2011). …”

Section: Kinases Genetically Implicated In Pdmentioning

confidence: 95%

Parkinsonâ€™s disease-implicated kinases in the brain; insights into disease pathogenesis

Dzamko

Zhou

Huang

et al. 2014

Front. Mol. Neurosci.

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Substantial evidence implicates abnormal protein kinase function in various aspects of Parkinson’s disease (PD) etiology. Elevated phosphorylation of the PD-defining pathological protein, α-synuclein, correlates with its aggregation and toxic accumulation in neurons, whilst genetic missense mutations in the kinases PTEN-induced putative kinase 1 and leucine-rich repeat kinase 2, increase susceptibility to PD. Experimental evidence also links kinases of the phosphoinositide 3-kinase and mitogen-activated protein kinase signaling pathways, amongst others, to PD. Understanding how the levels or activities of these enzymes or their substrates change in brain tissue in relation to pathological states can provide insight into disease pathogenesis. Moreover, understanding when and where kinase dysfunction occurs is important as modulation of some of these signaling pathways can potentially lead to PD therapeutics. This review will summarize what is currently known in regard to the expression of these PD-implicated kinases in pathological human postmortem brain tissue.

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Genome-wide association study of hospitalized COVID-19 patients in the United Arab Emirates

et al. 2021

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A genome-wide association study-derived candidate gene seeks replication: STK39

Cited by 3 publications

References 25 publications

STK39 Polymorphism Is Associated with Essential Hypertension: A Systematic Review and Meta-Analysis

STK39 Polymorphism Is Associated with Essential Hypertension: A Systematic Review and Meta-Analysis

Parkinsonâ€™s disease-implicated kinases in the brain; insights into disease pathogenesis

Genome-wide association study of hospitalized COVID-19 patients in the United Arab Emirates

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