Pseudoexfoliation syndrome and coronary artery ectasia

Akdemir, Mehmet; Sayın, Muhammet Raşit; Armut, Mustafa; Akpınar, İbrahim; Uğurbaş, Suat Hayri

doi:10.1038/eye.2014.40

Cited by 11 publications

(8 citation statements)

References 27 publications

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“…Reduced tissue expression levels of LOXL1 have been related to pronounced structural elastotic and biomechanical alterations of elastin-rich connective tissues, such as the lamina cribrosa and blood vessel walls, thereby increasing the risk for pressure-induced optic nerve damage and cardiovascular complications2433. Accordingly, our group and others have described a significant association between PEX and systemic disorders of elastic tissues, that is, aortic aneurysms, coronary artery ectasia, renal artery stenosis and pelvic organ prolapse67839404142. Changes in LOXL1 gene expression have been observed in many other conditions, including aging4344 and disorders involving weakening of elastic connective tissues454647.…”

Section: Discussionmentioning

confidence: 95%

Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

et al. 2017

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Although lysyl oxidase-like 1 (LOXL1) is known as the principal genetic risk factor for pseudoexfoliation (PEX) syndrome, a major cause of glaucoma and cardiovascular complications, no functional variants have been identified to date. Here, we conduct a genome-wide association scan on 771 German PEX patients and 1,350 controls, followed by independent testing of associated variants in Italian and Japanese data sets. We focus on a 3.5-kb four-component polymorphic locus positioned spanning introns 1 and 2 of LOXL1 with enhancer-like chromatin features. We find that the rs11638944:C>G transversion exerts a cis-acting effect on the expression levels of LOXL1, mediated by differential binding of the transcription factor RXRα (retinoid X receptor alpha) and by modulating alternative splicing of LOXL1, eventually leading to reduced levels of LOXL1 mRNA in cells and tissues of risk allele carriers. These findings uncover a functional mechanism by which common noncoding variants influence LOXL1 expression.

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Section: Discussionmentioning

confidence: 95%

Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

et al. 2017

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“…In the same cohort, no association of PEX with the 30-year all-cause mortality was found [70 && ]. Conversely, several case-control studies have reported association of PEX with specific systemic diseases, such as renal artery stenosis and abdominal aorta aneurysm with the use of Doppler ultrasonography [71] (in the same cohort no association with impaired renal function was reported) [72], or coronary artery ectasia by the means of coronary angiography [73], or with lower peak systolic velocities by myocardial tissue Doppler imaging or with increased carotid intima-media thickness by carotid ultrasound measurements [74]. A recent meta-analysis tried to combine the existing data on the association of PEX with vascular diseases and included 16 eligible studies (8533 PEX cases and 135 720 controls) [75].…”

Section: Association Of Pseudoexfoliation With Systemic Diseasesmentioning

confidence: 87%

Update on pseudoexfoliation syndrome pathogenesis and associations with intraocular pressure, glaucoma and systemic diseases

Anastasopoulos

Founti

Topouzis

2015

Current Opinion in Ophthalmology

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Despite the high prevalence of the LOXL1 variants in the general population, a much lower proportion of the population develops PEX, suggesting that in addition to LOXL1, other genetic, epigenetic and environmental factors may contribute to the development of PEX. Also, LOXL1 cannot help to identify those with PEX at increased risk for glaucoma development. Increased risk for glaucoma development in PEX patients who present with increased IOP may be related to other factors beyond IOP, contributing to increased vulnerability of the optic nerve to glaucoma development in the presence of PEX.

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“…Particular vascular diseases that have an apparent association with the PEX include those that affect the arterial wall. According to Akdemir et al, the PEX was more common in patients with coronary artery ectasia [33]. A study conducted in Australia detected a possible link between the PEX and vascular events, including AMI and stroke [32].…”

Section: Discussionmentioning

confidence: 99%

Link of ocular pseudoexfoliation syndrome and vascular system changes: results from 10-year follow-up study

et al. 2020

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Purpose To examine the 10-year incidence of the pseudoexfoliation syndrome (PEX) in adults in a population-based follow-up study, to determine its link with vascular diseases, and to identify possible risk factors of the PEX. Methods The baseline examination was performed in 2006 on a random sample of 1033 participants from Kaunas city (Lithuania) population. In 2016, a followup study of 686 participants who returned for the examination was conducted. The respondents filled out a questionnaire, an ophthalmological examination was performed, and the presence of vascular diseases was determined by the anamnesis and electrocardiogram evaluation data. Binary univariate and multivariate logistic regression analyses were conducted with the PEX and vascular diseases as predictors, controlling for age. Odds ratios (OR) and 95% confidence intervals of OR were calculated for the risk of new PEX cases. Results During 10 years, the prevalence of the PEX in the study population increased from 10.3 to 34.2%. The rates of ischemic heart disease (IHD) and IHD combined with stroke were significantly higher in the PEX subjects than in the non-PEX subjects. The risk of the PEX among persons with IHD was, on the average, by 1.5-fold higher, and among those with IHD and stroke, on the average, by 1.6-fold higher as compared to persons without the aforementioned pathologies (accordingly, p = 0.014 and p = 0.010). Conclusion The prevalence of the PEX increased significantly with age. The risk of the PEX was significantly higher among persons with IHD and even higher among persons with IHD and stroke. In the future, a greater understanding of the cardiovascular, metabolic, and environmental components associated with the PEX may lead to more specific lifestylerelated preventive strategies to decrease the disease burden.

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Pseudoexfoliation syndrome and coronary artery ectasia

Abstract: In this study, we found a possible association of pseudoexfoliation and coronary artery ectasia. Coronary artery ectasia patients had higher prevalence of pseudoexfoliation.

Cited by 11 publications

References 27 publications

Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

Update on pseudoexfoliation syndrome pathogenesis and associations with intraocular pressure, glaucoma and systemic diseases

Link of ocular pseudoexfoliation syndrome and vascular system changes: results from 10-year follow-up study

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