Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central Greece with primary open-angle glaucoma and pseudoexfoliation glaucoma

Zacharaki, Fani; Hadjigeorgiou, Georgios M.; Κολιάκος, Γεώργιος; Morrison, Margaux A.; Tsezou, Aspasia; Chatzoulis, Dimitrios Z; Almpanidou, Pavlina; Topouridou, Konstantina; Karabatsas, Constantinos H; Pefkianaki, Maria; DeAngelis, Margaret M.; Tsironi, Evangelia E.

doi:10.2147/opth.s64904

Cited by 14 publications

(9 citation statements)

References 36 publications

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“…Recently, in a case-control study of 144 POAG cases and 280 controls in Saudi Arabia, Al-Sharani et al indicated that the allele T and genotype CT of MTHFR C677T polymorphism confer risk of POAG, while allele C and CC genotype had a different role [30]. However, four studies did not find an association between MTHFR C677T polymorphism and POAG risk in Iranian, Mexican, Indian and Greek populations [25,[27][28][29]. In 2012, Xu et al have conducted the first meta-analysis including ten studies with 1,406 cases and 1,216 controls on MTHFR C677T polymorphism [38].…”

Section: Discussionmentioning

confidence: 99%

“…Among the remaining studies, 84 articles were excluded because they were review articles, letters to editors, previous meta-analyses, not relevant to MTHFR C677T and A1298C, not casecontrol studies, evaluated other diseases instead of glaucoma, case reports, and other polymorphisms of MTHFR gene. Finally, a total of 42 case-control studies including 33 studies (in 19 publications) with 3,504 cases and 2,525 controls for MTHFR C677T [9][10][11][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31] and nine studies (in six publications) with 1,073 cases and 775 controls for A1298C [11,[19][20][21]23,29] were selected. The main characteristics of studies included in the current meta-analysis are presented in Tables 1 and 2.…”

Section: Study Selection and Characteristicsmentioning

confidence: 99%

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Association of MTHFR C677T and A1298C Polymorphisms with Glaucoma Risk: a Systematic Review Meta-Analysis based 42 Case-Control Studies

Gohari

Mirjalili

Akbarian-Bafghi

et al. 2019

rjo

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Aim: Several epidemiological studies have been performed to explore the association of MTHFR polymorphisms with glaucoma risk. However, the results were inconsistent or even inconclusive. Hence, we performed a meta-analysis to evaluate the association of MTHFR C677T and A1298C polymorphisms with glaucoma risk. Methods: A comprehensive literature search on PubMed, Google Scholar, EMBASE, and CNKI databases was performed to find all eligible studies up to January 30, 2019. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of such association. Results: A total of 42 case-control studies including 33 studies for MTHFR C677T and nine studies for A1298C polymorphism were selected. Pooled results showed that there was no significant association between the MTHFR C677T polymorphism and glaucoma risk. Similarly, no associations were found in subgroup analysis based on ethnicity and glaucoma type. However, there was a significant association between the A1298C polymorphism and the increased risk of glaucoma under heterozygote model (OR=0.765, 95% CI=0.626-0.935, P=0.009). Moreover, the significant association between MTHFR A1298C polymorphism and glaucoma were found by ethnicity and primary open angle glaucoma (POAG). Conclusions: The present meta-analysis revealed that MTHFR A1298C polymorphism is significantly associated with the increased risk of glaucoma, but not MTHFR C677T polymorphism.

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Section: Discussionmentioning

confidence: 99%

Section: Study Selection and Characteristicsmentioning

confidence: 99%

Association of MTHFR C677T and A1298C Polymorphisms with Glaucoma Risk: a Systematic Review Meta-Analysis based 42 Case-Control Studies

Gohari

Mirjalili

Akbarian-Bafghi

et al. 2019

rjo

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“…After 7 months on this diet, they found a severe HHcy in Tg2576 mice, but the diet failed to cause any significant alterations in Aβ levels, deposition, or AβPP metabolism. However, a recent clinical study on a cohort of patients with POAG or pseudoexfoliation glaucoma [118] failed to find a correlation between POAG and plasma homocysteine levels. Therefore, further studies are needed to clarify the role of HHcy in neuronal pathologies [116,119].…”

Section: Glaucoma and Alzheimer's Disease From Epidemiological Relatmentioning

confidence: 97%

Critical Review on the Relationship between Glaucoma and Alzheimer's Disease

Pescosolido¹,

Pascarella²,

Buomprisco³

et al. 2014

AOVS

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two distinct pathologies, despite similar pathophysiology and demographic distribution. Both diseases are neurodegenerative, chronic and progressive in nature, with irreversible neuronal cell loss. Furthermore, both POAG and AD disease primarily affect the elderly, with a strongly age-dependent incidence. The progressive debilitating course of both diseases has tremendous implications on an aging population [1]. For years Glaucoma has been associated with high IOP [2], although scientists had accepted this etiology with caution, since it was known that POAG could develop in subjects with normal or even low IOP. In fact, one out of three POAG patients has normotensive or low tension glaucoma [3]. This observation has led the scientific community to look for other possible causes of this slowly debilitating pathogenesis.The hallmark of neurodegenerative diseases is the death of specific neuron populations, and of those other neurons that are inter-connected and depend for their survival on the inputs from the main population (trans-synaptic degeneration). In Parkinson's disease accumulation of alfa-synuclein [4] causes the degeneration of dopaminergic neurons of the substantia nigra, in the midbrain, thus leading to the classic symptoms of Parkinson's such as tremor, akinesia, bradykinesia, and stiffness [5]. In AD there is a loss of neurons in the cerebral cortex and certain subcortical regions. This loss results in gross atrophy of the affected regions, including degeneration in the temporal lobe and parietal lobe, and parts of the frontal cortex and cingulate gyrus [6]. Both amyloid plaques and neurofibrillary tangles are AbstractA third of people affected by primary open angle glaucoma (POAG) have normal or even low intraocular pressure (IOP), such as in the case of normotensive glaucoma and low pressure glaucoma. Therefore, high IOP, while remaining the most important risk factor for POAG development, is not the only one. POAG has been recognized to belong to the class of neurodegenerative diseases, such as Alzheimer's (AD) and Parkinson's, and several recent studies have suggested possible links between Alzheimer's and glaucoma both from an epidemiological and a pathogenetic point of view. In fact, several pathogenetic factors are common between the two diseases: the diffuse axonal degeneration of ganglion cells, the presence of specific markers (such as amyloid-β) in the aqueous humor, the activation of caspases and the abnormal processing of amyloid precursor protein in retinal ganglion cells, the reduction of the intracranial pressure of the cerebrospinal fluid, the mutations of the gene that encodes for optineurine. Conflicting data have been reported concerning apolipoprotein E. Finally, numerous publications affirm the utility of molecules traditionally used in the treatment of neurodegenerative diseases (e.g. forskolin, L-carnosine, homotaurine, folic acid, acetylcholinesterase inhibitors, antioxidant vitamins, glatiramer acetate, etc.) also in the treatment of glaucoma.In the present research we ana...

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“…In 2 Studien konnte eine signifikant höhere Prävalenz dieses Polymorphismus beim POWG gezeigt werten [16,42]. Dies konnte in anderen Studien bisher nicht bestätigt werden [19,20,33,43,44]. Genetische Varianten infolge Polymorphismen der am Homocysteinstoffwechsel beteiligten Enzyme als Ursache der Hyper-Hcy konnten beim PEXG bisher nicht nachgewiesen werden [19,32,33,43,45] Risikofaktoren für altersassoziierte Augenerkrankungen und Hyperhomocysteinämie sind gleich Chronische, altersassoziierte Augenerkrankungen, die mit einer Neurodegeneration einhergehen, weisen eine Assoziation mit einem gestörten Homocysteinmetabolismus auf.…”

Section: Die Daten Zu Genetischen Ursachen Einer Hyperhomocysteinämieunclassified

Stellenwert vom Homocystein beim Glaukom

Jünemann

Ręjdak²,

Hohberger

2018

Klin Monatsbl Augenheilkd

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Endothelial dysfunction and vascular dysregulation play a role in the multifactorial pathogenesis of glaucomatous optic nerve atrophy. Hyperhomocysteinemia is a risk factor for endothelial dysfunction and is associated with primary open-angle glaucoma as well as secondary open-angle glaucoma in the pseudoexfoliation syndrome. This paper reviews the literature on the association between homocysteine metabolism and glaucomatous disease and explains the possible role of hyperhomocysteinemia in the pathogenesis and progression of glaucoma. We discuss the role of exogenous modifiable risk factors for the prevention and therapy of glaucoma, as well as modification of these factors by changes in life style, such as weight reduction, changes in nutrition and physical activity. The roles of homocysteine in regulating the extracellular matrix, vasotoxicity, neurodegeneration, and epigenetics are explained. Prevention and therapy of glaucoma by regulation of homocysteine levels are discussed.

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Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central Greece with primary open-angle glaucoma and pseudoexfoliation glaucoma

Cited by 14 publications

References 36 publications

Association of MTHFR C677T and A1298C Polymorphisms with Glaucoma Risk: a Systematic Review Meta-Analysis based 42 Case-Control Studies

Association of MTHFR C677T and A1298C Polymorphisms with Glaucoma Risk: a Systematic Review Meta-Analysis based 42 Case-Control Studies

Critical Review on the Relationship between Glaucoma and Alzheimer's Disease

Stellenwert vom Homocystein beim Glaukom

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