Genetics of stroke: a review of recent advances

Domingues‐Montanari, Sophie; Mendioroz, Maite; Río-Espínola, Alberto Del; Fernández‐Cadenas, Israel; Montaner, Joan

doi:10.1586/14737159.8.4.495

Cited by 50 publications

(28 citation statements)

References 149 publications

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“…Boxes surrounding SNP names indicate the 12 polymorphisms that we Wrst genotyped virtually all tissues, while nNOS and eNOS are constitutively expressed primarily in neural tissue and endothelium, respectively, which are the principal tissues involved in stroke. Several published case-control studies describe an association of genetic variants in eNOs with ischemic stroke risk (Domingues-Montanari et al 2008), and we have found an association of nNOS with IS (personal communication). Kalirin-7 is involved in the regulation of ischemic signal transduction (Beresewicz et al 2008), and may play a neuroprotective role during inXammation of the central nervous system by inhibiting iNOS activity (Ratovitski et al 1999).…”

Section: Discussionsupporting

confidence: 52%

Kalirin: a novel genetic risk factor for ischemic stroke

et al. 2010

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Cerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene with susceptibility to cardiovascular and metabolic phenotypes, but no studies have yet been performed in stroke patients. KALRN is involved, among others, in the inhibition of inducible nitric oxide synthase, in the regulation of ischemic signal transduction, and in neuronal morphogenesis, plasticity, and stability. The goal of the present study was to determine whether SNPs in the KALRN region on 3q13, which includes the Ropporin gene (ROPN1), predispose to ischemic stroke (IS) in a cohort of Portuguese patients and controls. We genotyped 34 tagging SNPs in the KALRN and ROPN1 chromosomal region on 565 IS patients and 517 unrelated controls, and performed genotype imputation for 405 markers on chromosome 3. We tested the singlemarker association of these SNPs with IS. One SNP (rs4499545) in the ROPN1-KALRN intergenic region and two SNPs in KALRN (rs17286604 and rs11712619) showed signiWcant (P < 0.05) allelic and genotypic (unadjusted and adjusted for hypertension, diabetes, and ever smoking) association with IS risk. Thirty-two imputed SNPs also showed an association at P < 0.05, and actual genotyping of Electronic supplementary material The online version of this article

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Section: Discussionsupporting

confidence: 52%

Kalirin: a novel genetic risk factor for ischemic stroke

et al. 2010

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“…Hypertension, diabetes mellitus, and dyslipidemia have been demonstrated by others to be related to cerebral infarction, and are recognized as traditional risk factors (Park et al, 2014). Genetics and molecular biology studies have revealed the existence of genetic predisposition to cerebral infarction, and have identified various polymorphisms associated with this condition (Domingues-Montanari et al, 2008;Xu et al, 2008). Atherosclerosis, the inflammatory response, and impaired vascular endothelial function play an important role in the development of cerebral infarction (Pucci et al, 2011;Soskić et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

Correlation between PPARg2 gene Pro12Ala polymorphism and cerebral infarction in an Inner Mongolian Han Chinese population

Zhang

et al. 2016

Genet. Mol. Res.

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ABSTRACT. The variant of PPAR-g2 has been shown to promote the increase of carotid IMT in patients suffering from cerebral infarction and the Pro12Ala polymorphism in the peroxisome proliferatoractivated receptorg2 (PPARg2) gene may be associated with cerebral infarction. However, due to the different genetic background, race, and regional variations of cerebral infarction patient, the results of investigations into this subject differ. The aim of this study was to investigate this polymorphism in relation to cerebral infarction among the Inner Mongolian Han Chinese population. A total of 574 Han Chinese individuals from Inner Mongolian were selected randomly, including 302 patients with cerebral infarction and 272 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism was used to determine genotypes of the PPARg2 Pro12Ala variant and results were confirmed by direct sequencing. Genotype frequencies were found to be 90.7 and 91.9% for P/P, 8.6 and 7.7% for P/A, and 0.7 and 0.4 for A/A in the cerebral infarction and control groups, respectively. No statistically significant differences in genotype distribution were observed between the two groups (P > 0.05). Moreover, PPARg2 Pro12Ala genotype was not significantly associated with altered fasting blood glucose, blood pressure, or serum lipid profiles. After adjustment for gender, body mass index, and smoking habit, logistic regression was used to analyze the relationship between the Pro12Ala polymorphism and cerebral infarction (odds ratio = 0.888, 95% confidence interval = 0.106-7.460, P > 0.05), revealing that this variant was not the main pathogenic factor involved. Therefore, the Pro12Ala mutation of PPARg2 may not be associated with cerebral infarction in the Inner Mongolian Han Chinese population.

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“…The 2 test was used to analyze the deviation of Hardy -Weinberg equilibrium for genotype frequencies. Continuous variables were compared between patients with IS and controls using the Student's t -test.…”

Section: Discussionmentioning

confidence: 99%

“…Stroke is a leading cause of mortality and disability [1][2][3] . Ischemic stroke (IS) is the most common type, accounting for up to 80% of all strokes 4) .…”

Section: Introductionmentioning

confidence: 99%

Interaction among CYP2C8, EPHX2, and CYP4A11 Gene Variants Significantly Increases the Risk for Ischemic Stroke in Chinese Populations

Liao

et al. 2015

JAT

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Aim: Ischemic stroke (IS) is a multifactorial disease caused by environmental risk factors and genetic susceptibility. However, few studies have assessed whether gene -gene interactions among cytochrome P450 (CYP) pathway genes influence the risk of IS. The aim of the present study was to investigate the association of 10 variants of eight CYP pathway genes with IS and to determine whether these gene -gene interactions increase the risk of IS. Methods: Ten variants of eight CYP pathway genes were examined using mass spectrometry methods in 396 patients with IS and 378 controls. Gene -gene interactions were analyzed using generalized multifactor dimensionality reduction (GMDR) methods. Results: Apart fro m variant rs9333025, there were no significant differences in the genotype distributions of the other nine variants between the two groups using the single -locus analytical approach. However, the GMDR analysis showed a significant gene -gene interaction among rs17110453, rs751141, and rs9333025, which scored 10 for cross-validation consistency and nine for the sign test (p 0.011). Individual patients with the combination of 17110453CC, rs751141GG, and rs9333025GG had a significantly higher risk for IS than those with the combination of 17110453AA, rs751141AA, and rs9333025AA [odds ratio (OR) 2.86, 95% confidence interval (CI): 1.24 -7.26, p 0.004]. Logistic regression analysis showed that certain gene -gene interactions among rs17110453, rs751141, and rs9333025 predict a higher risk for IS (OR 2.36, 95% CI: 1.228 -5.297, p 0.005). Conclusion:The three-loci interaction may confer a higher risk for IS. The combinatorial analysis used in this study may be helpful to elucidate complex genetic risk factors for IS.

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Genetics of stroke: a review of recent advances

Cited by 50 publications

References 149 publications

Kalirin: a novel genetic risk factor for ischemic stroke

Kalirin: a novel genetic risk factor for ischemic stroke

Correlation between PPARg2 gene Pro12Ala polymorphism and cerebral infarction in an Inner Mongolian Han Chinese population

Interaction among <i>CYP2C8</i>, <i>EPHX2</i>, and <i>CYP4A11</i> Gene Variants Significantly Increases the Risk for Ischemic Stroke in Chinese Populations

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