Genetic variants of connexin37 are associated with carotid intima-medial thickness and future onset of ischemic stroke

Leu, Hsin Bang; Chung, Chia Min; Chuang, Shao Yuan; Bai, Chyi Huey; Chen, Jiunn Rong; Chen, Jaw Wen; Pan, Wen Harn

doi:10.1016/j.atherosclerosis.2010.10.010

Cited by 39 publications

(33 citation statements)

References 29 publications

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“…A similar definition of stroke in more detail has been described in our previous studies 19 20. The identification of stroke by the ICD registry has been proved valid and has been extensively used in other population-based studies 18–21.…”

Section: Methodsmentioning

confidence: 89%

Central serous chorioretinopathy and risk of ischaemic stroke: a population-based cohort study

Tsai

Huang²,

Chen

et al. 2012

Br J Ophthalmol

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Section: Methodsmentioning

confidence: 89%

Central serous chorioretinopathy and risk of ischaemic stroke: a population-based cohort study

Tsai

Huang²,

Chen

et al. 2012

Br J Ophthalmol

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“…7,8 And a recently published paper suggested the genetic polymorphisms of ADIPOQ were associated with ischemic stroke. [9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] In this meta-analysis, a total of eight case-control studies were analyzed to provide a comprehensive assessment of the association between ADIPOQ polymorphisms and ischemic stroke. Genotypes in all studies were detected with genetic DNA from blood samples using a total of three genotyping methods.…”

Section: Discussionmentioning

confidence: 99%

“…However, the conclusions of these studies were inconsistent. Leu et al 18 did not find any association between ADIPOQ polymorphisms and ischemic stroke. But Liu et al 19 found a positive association of ADIPOQ polymorphisms with ischemic stroke.…”

Section: Introductionmentioning

confidence: 99%

“…Finally, a total of seven articles met the criteria and were included the present meta-analysis. 16,18,19,[21][22][23][24] …”

Section: Literature Searchmentioning

confidence: 99%

“…8 Recent evidence has implicated the genetic polymorphism of the adiponectin gene (ADIPOQ) in association with risk of coronary heart disease and ischemic stroke. [9][10][11][12][13][14][15][16][17][18][19][20] Three singlenucleotide polymorphisms (SNPs) including rs266766 (T is converted to G), rs1501299 (G is converted to T) and rs266729 (C is converted to G) were focused on in these studies. However, the conclusions of these studies were inconsistent.…”

Section: Introductionmentioning

confidence: 99%

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Adiponectin gene polymorphisms contributes to ischemic stroke risk: A meta-analysis

Shen

Xing

Chen

2014

J Renin Angiotensin Aldosterone Syst

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Background: Previous studies have reported the relation between the adiponectin polymorphisms and the risk of ischemic stroke. However, the findings is inclusive. In the present study, we performed a meta-analysis to clarify the relation between the adiponectin polymorphisms and the stroke. Methods: Relevant studies were identified by searching PubMed, EMBASE, ISI Web of Science, ScienceDirect, Wiley Online Library, Wanfang database in China, and Chinese National Knowledge Infrastructure databases (CNKI) through July 2013 and other method such as reviewing the reference of retrieved literatures. We selected literatures that reported Odds ratio (OR) and 95% confidence interval (CI) for the relation between the ischemic stroke and the adiponectin genetic polymorphisms. With 1720 stroke cases and 5549 controls, were included. Our results showed that rs2241766 was associated with the risk of ischemic stroke in a recessive model (GG vs (TT+TG), OR = 1.29, 95% CI: 1.01–1.64, p = 0.04). However, rs1501299 and rs266729 were not found to be associated with ischemic stroke in our analysis. Conclusion: The present study suggested that rs2241766 polymorphism of adiponectin gene was associated with the risk for ischemic stroke.

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Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations

et al. 2022

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Orbital cavernous venous malformation (OCVM) is a sporadic vascular anomaly of uncertain etiology characterized by abnormally dilated vascular channels. Here, we identify a somatic missense mutation, c.121G > T (p.Gly41Cys) in GJA4, which encodes a transmembrane protein that is a component of gap junctions and hemichannels in the vascular system, in OCVM tissues from 25/26 (96.2%) individuals with OCVM. GJA4 expression was detected in OCVM tissue including endothelial cells and the stroma, through immunohistochemistry. Within OCVM tissue, the mutation allele frequency was higher in endothelial cell-enriched fractions obtained using magnetic-activated cell sorting. Whole-cell voltage clamp analysis in Xenopus oocytes revealed that GJA4 c.121G > T (p.Gly41Cys) is a gain-of-function mutation that leads to the formation of a hyperactive hemichannel. Overexpression of the mutant protein in human umbilical vein endothelial cells led to a loss of cellular integrity, which was rescued by carbenoxolone, a non-specific gap junction/hemichannel inhibitor. Our data suggest that GJA4 c.121G > T (p.Gly41Cys) is a potential driver gene mutation for OCVM. We propose that hyperactive hemichannel plays a role in the development of this vascular phenotype.

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Genetic variants of connexin37 are associated with carotid intima-medial thickness and future onset of ischemic stroke

Cited by 39 publications

References 29 publications

Central serous chorioretinopathy and risk of ischaemic stroke: a population-based cohort study

Central serous chorioretinopathy and risk of ischaemic stroke: a population-based cohort study

Adiponectin gene polymorphisms contributes to ischemic stroke risk: A meta-analysis

Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations

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