Replication Study of Polymorphisms Associated With Brain Arteriovenous Malformation in a Population From South of Brazil

Franciscatto, André Cerutti; Ludwig, Fernanda Sperb; Matte, Úrsula; Mota, S.C. Ferreira; Stefani, Marco Antônio

doi:10.7759/cureus.508

Cited by 4 publications

(4 citation statements)

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“…In these papers, 14 single nucleotide polymorphisms (SNPs) in 10 genes (rs2071219,10–14 rs706819,11 14 and rs1116995311 14 in ACVRL1 ; rs1154566410–12 and rs1098775910 11 in ENG ; rs180079512 15 in IL6 ; rs114362712 13 15 16 and rs1694412 15–17 in IL1B ; rs52261613 16 18 in MMP3 ; rs1167243316 19 20 in ANGPTL4 ; rs302501016 21 in VEGFA ; rs180058713 22 in IL1A ; rs701556616 23 in GPR124 ; and rs133304016 24 25 in CDKN2B-AS1 ) from 16 candidate gene association studies were evaluated for further meta-analysis. These studies were performed mainly in Caucasian and Asian populations.…”

Section: Resultsmentioning

confidence: 99%

“…In addition to CDKN2B-AS1 , a prominent impact of neuroinflammation involving NFĸB signaling has been described in bAVM, and particularly rupture of the AVM. Genetic polymorphisms coding for inflammation related molecules, such as IL-1, IL-6, VEGF, MMP-3, and ANGPTL4, have been tested in association studies, and several SNPs have been identified in different populations 12 13 15–17 19 20. Although these inflammatory genes have been shown to be associated with vascular diseases in genetic studies or with bAVM in experimental studies, evidence of association of SNPs in these genes were not identified after analysis (table 1).…”

Section: Discussionmentioning

confidence: 99%

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Associated genetic variants and potential pathogenic mechanisms of brain arteriovenous malformation

Liu

Zhang

et al. 2022

J NeuroIntervent Surg

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BackgroundThe pathogenic mechanism of brain arteriovenous malformation (bAVM) is poorly understood. A growing body of evidence indicates that genetic factors play crucial roles in bAVM. This study examined genetic variants associated with bAVM through quantitative synthesis and qualitative description of literature.MethodsFive databases were searched to gather potentially relevant articles published up to January 2022. STATA 14.0 software was used for statistical analyses. Pooled odds ratios and 95% confidence intervals were calculated with random effect models, and heterogeneity was assessed using the Cochran Q test and quantified with the I2 test. Sensitivity and publication bias were analyzed to test the robustness of the associations. Variants identified in only one study or with great heterogeneity were not suitable for pooling association analysis, and therefore a qualitative systematic review was performed.ResultsIn total, 30 papers were included in a systematic review involving 4709 cases and 7832 controls, where 17 papers were in a meta-analysis. A suggested association of bAVM was observed with ACVRL1 rs2071219 in the additive model and CDKN2B-AS1 rs1333040 in the recessive and additive models. Other variants of genes that could not be analyzed were summarized by qualitative description. These genes were mostly involved in bone morphogenic protein/transforming growth factor beta (BMP/TGF-β), vascular endothelial growth factor/vascular endothelial growth factor receptor (VEGF/VEGFR), and RAS-mitogen activated protein kinase (MAPK) signaling and inflammation.ConclusionsAccording to our meta-analysis, ACVRL1 rs2071219 and CDKN2B-AS1 rs1333040 were potentially associated with bAVM. Multiple pathological signaling pathways could affect disease development. Future studies should aim to determine the interaction of candidate genes with environmental risk factors and to elucidate detailed mechanisms of action of variants and genes.1

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Associated genetic variants and potential pathogenic mechanisms of brain arteriovenous malformation

Liu

Zhang

et al. 2022

J NeuroIntervent Surg

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“…www.nature.com/scientificreports www.nature.com/scientificreports/ However, although our research group and others have identified the involvement of TGF-β1 receptors in cardiovascular and renal damage (as described in the introduction section), to date there are no studies relating the presence of gene polymorphic variants in TGF-β1 receptors with cardiovascular damage. The only studies relating ALK1 and endoglin polymorphisms with cardiovascular damage show the absence of associations between the ALK1 rs2071219 polymorphism and the risks of brain arteriovenous malformations 28 , and between the endoglin rs3739817 polymorphism with human pulmonary arterial HP 29 . One study with the endoglin rs10987759 polymorphism shows a trend toward association with sporadic brain arteriovenous malformations, although it does not reach statistical significance 30 .…”

Section: Discussionmentioning

confidence: 99%

Association of Alk1 and Endoglin Polymorphisms with Cardiovascular Damage

Garzon-Martinez

Perretta-Tejedor

Gómez‐Marcos

et al. 2020

Sci Rep

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Cardiovascular diseases are associated to risk factors as obesity, hypertension and diabetes. The transforming growth factor-β1 receptors ALK1 and endoglin regulate blood pressure and vascular homeostasis. However, no studies relate the association of ALK1 and endoglin polymorphisms with cardiovascular risk factors. We analysed the predictive value of the ALK1 and endoglin polymorphisms on cardiovascular target organ damage in hypertensive and diabetic patients in 379 subjects with or without hypertension and diabetes in a Primary Care setting. The ALK1 rs2071219 polymorphism (AA genotype) is associated with a lower presence of diabetic retinopathy and with the absence of altered basal glycaemia. Being carrier of the ALK1 rs3847859 polymorphism (G allele) is associated with lower basal heart rate and with higher LDL-cholesterol levels. The endoglin rs3739817 polymorphism (AA genotype) is associated with higher levels of LDL-cholesterol, and being carrier of the endoglin rs10987759 polymorphism (C allele) is associated with higher haemoglobin levels and with an increased heart rate. Summarizing, several ALK1 and endoglin gene polymorphisms increase the risk of cardiovascular events. The analysis of these polymorphisms in populations at risk, in combination with the determination of other parameters and biomarkers, could implement the diagnosis and prognosis of susceptibility to cardiovascular damage.

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“…The characteristics of included studies in this meta-analysis[20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37] …”

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confidence: 99%

Interleukin-1 and Interleukin-6 Polymorphisms Might Influence Predisposition to Hemorrhagic Cerebral Vascular Diseases: A Meta-Analysis

Lin

Zhang

Wang

et al. 2021

Neuroimmunomodulation

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Background: Interleukin-1 (IL-1) and IL-6 polymorphisms might influence predisposition to hemorrhagic cerebral vascular diseases, but the results of already published studies regarding relationship between IL-1/IL-6 polymorphisms and hemorrhagic cerebral vascular diseases were still controversial and ambiguous. Objectives: The authors designed this meta-analysis to more precisely estimate the relationship between IL-1/IL-6 polymorphisms and hemorrhagic cerebral vascular diseases by pooling the results of already published related studies. Methods: The authors searched PubMed, EMBASE, Web of Science, and CNKI for already published studies. Eighteen already published studies were pooled analyzed in this meta-analysis. Results: The pooled meta-analyses’ results showed that distributions of IL-1A rs1800587, IL-1B rs16944, and IL-6 rs1800796 polymorphisms among patients and controls differed significantly. Moreover, distribution of the IL-6 rs1800795 polymorphism among patients and controls from Asians also differed significantly. Further analyses showed similar findings for IL-1A rs1800587, IL-1B rs16944, and IL-6 rs1800796 polymorphisms in aneurysmal subarachnoid hemorrhage (aSAH) subgroup. Conclusions: This meta-analysis suggested that IL-1A rs1800587, IL-1B rs16944, and IL-6 rs1800796 polymorphisms might influence susceptibility to hemorrhagic cerebral vascular diseases, especially for aSAH. Moreover, IL-6 rs1800795 might influence susceptibility to hemorrhagic cerebral vascular diseases in Asians.

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Replication Study of Polymorphisms Associated With Brain Arteriovenous Malformation in a Population From South of Brazil

Cited by 4 publications

References 14 publications

Associated genetic variants and potential pathogenic mechanisms of brain arteriovenous malformation

Associated genetic variants and potential pathogenic mechanisms of brain arteriovenous malformation

Association of Alk1 and Endoglin Polymorphisms with Cardiovascular Damage

Interleukin-1 and Interleukin-6 Polymorphisms Might Influence Predisposition to Hemorrhagic Cerebral Vascular Diseases: A Meta-Analysis

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