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

Fani Zacharaki,1 Georgios M Hadjigeorgiou,2 Georgios G Koliakos,3 Margaux A Morrison,4 Aspasia Tsezou,5 Dimitrios Z Chatzoulis,1 Pavlina Almpanidou,1 Konstantina Topouridou,3 Constantinos H Karabatsas,1 Maria Pefkianaki,1 Margaret M DeAngelis,4 Evangelia E Tsironi1 1Department of Ophthalmology, 2De...

Full description

Bibliographic Details
Main Authors: Zacharaki F, Hadjigeorgiou GM, Koliakos GG, Morrison MA, Tsezou A, Chatzoulis DZ, Almpanidou P, Topouridou K, Karabatsas CH, Pefkianaki M, DeAngelis MM, Tsironi EE
Format: Article
Language:English
Published: Dove Medical Press 2014-09-01
Series:Clinical Ophthalmology
Online Access:http://www.dovepress.com/plasma-homocysteine-and-genetic-variants-of-homocysteine-metabolism-en-peer-reviewed-article-OPTH
_version_ 1818905900633554944
author Zacharaki F
Hadjigeorgiou GM
Koliakos GG
Morrison MA
Tsezou A
Chatzoulis DZ
Almpanidou P
Topouridou K
Karabatsas CH
Pefkianaki M
DeAngelis MM
Tsironi EE
author_facet Zacharaki F
Hadjigeorgiou GM
Koliakos GG
Morrison MA
Tsezou A
Chatzoulis DZ
Almpanidou P
Topouridou K
Karabatsas CH
Pefkianaki M
DeAngelis MM
Tsironi EE
author_sort Zacharaki F
collection DOAJ
description Fani Zacharaki,1 Georgios M Hadjigeorgiou,2 Georgios G Koliakos,3 Margaux A Morrison,4 Aspasia Tsezou,5 Dimitrios Z Chatzoulis,1 Pavlina Almpanidou,1 Konstantina Topouridou,3 Constantinos H Karabatsas,1 Maria Pefkianaki,1 Margaret M DeAngelis,4 Evangelia E Tsironi1 1Department of Ophthalmology, 2Department of Neurology, Faculty of Medicine, University of Thessaly, Larissa, 3Department of Biochemistry, Medical School, Aristotles University of Thessaloniki, Thessaloniki, Greece; 4Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah, Salt Lake City, UT, USA; 5Department of Biology, Faculty of Medicine, University of Thessaly, Larissa, Greece Background: The purpose of this study was to investigate plasma homocysteine levels and polymorphisms in genes encoding enzymes in the metabolic pathway of homocysteine in association with primary open-angle glaucoma (POAG) and pseudoexfoliation glaucoma (PXFG). Methods: A total of 156 glaucoma patients (76 with POAG and 80 with PXFG) and 135 controls matched for age and sex were enrolled in this study. Plasma homocysteine levels were measured using a commercially available enzyme-linked immunosorbent assay kit. DNA was extracted from peripheral blood leukocytes and real-time polymerase chain reaction was performed for genotyping of the samples. Patients were genotyped using predesigned TaqMan® single nucleo­tide polymorphism genotyping assays for two exon variations (rs1801131, rs1801133) in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and one intron variation (rs8006686) in the methylenetetrahydrofolate dehydrogenase (MTHFD1) gene.Results: Homocysteine levels were slightly higher in the patient group (POAG and PXFG) compared with controls, but the difference did not reach statistical significance. The minor alleles of the MTHFR single nucleotide polymorphisms showed a protective effect for POAG and showed an increased risk for PXFG, but none of these associations reached statistical significance (P>0.05). The minor allele of MTHFD1 rs8006686 showed a trend for increased risk of both POAG and PXFG (P>0.05). No statistically significant interaction was seen between the genetic variants and homocysteine levels (P>0.05). Conclusion: Our results show that neither the examined single nucleotide polymorphisms from genes involved in the pathway of homocysteine metabolism nor the measured homocysteine levels were associated with POAG or PXFG in our study cohort. Keywords: homocysteine, glaucoma, polymorphisms
first_indexed 2024-12-19T21:30:41Z
format Article
id doaj.art-f3bb064338fc43ba866a1c3384589260
institution Directory Open Access Journal
issn 1177-5483
language English
last_indexed 2024-12-19T21:30:41Z
publishDate 2014-09-01
publisher Dove Medical Press
record_format Article
series Clinical Ophthalmology
spelling doaj.art-f3bb064338fc43ba866a1c33845892602022-12-21T20:04:56ZengDove Medical PressClinical Ophthalmology1177-54832014-09-012014default1819182518303Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central Greece with primary open-angle glaucoma and pseudoexfoliation glaucomaZacharaki FHadjigeorgiou GMKoliakos GGMorrison MATsezou AChatzoulis DZAlmpanidou PTopouridou KKarabatsas CHPefkianaki MDeAngelis MMTsironi EEFani Zacharaki,1 Georgios M Hadjigeorgiou,2 Georgios G Koliakos,3 Margaux A Morrison,4 Aspasia Tsezou,5 Dimitrios Z Chatzoulis,1 Pavlina Almpanidou,1 Konstantina Topouridou,3 Constantinos H Karabatsas,1 Maria Pefkianaki,1 Margaret M DeAngelis,4 Evangelia E Tsironi1 1Department of Ophthalmology, 2Department of Neurology, Faculty of Medicine, University of Thessaly, Larissa, 3Department of Biochemistry, Medical School, Aristotles University of Thessaloniki, Thessaloniki, Greece; 4Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah, Salt Lake City, UT, USA; 5Department of Biology, Faculty of Medicine, University of Thessaly, Larissa, Greece Background: The purpose of this study was to investigate plasma homocysteine levels and polymorphisms in genes encoding enzymes in the metabolic pathway of homocysteine in association with primary open-angle glaucoma (POAG) and pseudoexfoliation glaucoma (PXFG). Methods: A total of 156 glaucoma patients (76 with POAG and 80 with PXFG) and 135 controls matched for age and sex were enrolled in this study. Plasma homocysteine levels were measured using a commercially available enzyme-linked immunosorbent assay kit. DNA was extracted from peripheral blood leukocytes and real-time polymerase chain reaction was performed for genotyping of the samples. Patients were genotyped using predesigned TaqMan® single nucleo­tide polymorphism genotyping assays for two exon variations (rs1801131, rs1801133) in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and one intron variation (rs8006686) in the methylenetetrahydrofolate dehydrogenase (MTHFD1) gene.Results: Homocysteine levels were slightly higher in the patient group (POAG and PXFG) compared with controls, but the difference did not reach statistical significance. The minor alleles of the MTHFR single nucleotide polymorphisms showed a protective effect for POAG and showed an increased risk for PXFG, but none of these associations reached statistical significance (P>0.05). The minor allele of MTHFD1 rs8006686 showed a trend for increased risk of both POAG and PXFG (P>0.05). No statistically significant interaction was seen between the genetic variants and homocysteine levels (P>0.05). Conclusion: Our results show that neither the examined single nucleotide polymorphisms from genes involved in the pathway of homocysteine metabolism nor the measured homocysteine levels were associated with POAG or PXFG in our study cohort. Keywords: homocysteine, glaucoma, polymorphismshttp://www.dovepress.com/plasma-homocysteine-and-genetic-variants-of-homocysteine-metabolism-en-peer-reviewed-article-OPTH
spellingShingle Zacharaki F
Hadjigeorgiou GM
Koliakos GG
Morrison MA
Tsezou A
Chatzoulis DZ
Almpanidou P
Topouridou K
Karabatsas CH
Pefkianaki M
DeAngelis MM
Tsironi EE
Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central Greece with primary open-angle glaucoma and pseudoexfoliation glaucoma
Clinical Ophthalmology
title Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central Greece with primary open-angle glaucoma and pseudoexfoliation glaucoma
title_full Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central Greece with primary open-angle glaucoma and pseudoexfoliation glaucoma
title_fullStr Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central Greece with primary open-angle glaucoma and pseudoexfoliation glaucoma
title_full_unstemmed Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central Greece with primary open-angle glaucoma and pseudoexfoliation glaucoma
title_short Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central Greece with primary open-angle glaucoma and pseudoexfoliation glaucoma
title_sort plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central greece with primary open angle glaucoma and pseudoexfoliation glaucoma
url http://www.dovepress.com/plasma-homocysteine-and-genetic-variants-of-homocysteine-metabolism-en-peer-reviewed-article-OPTH
work_keys_str_mv AT zacharakif plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma
AT hadjigeorgiougm plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma
AT koliakosgg plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma
AT morrisonma plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma
AT tsezoua plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma
AT chatzoulisdz plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma
AT almpanidoup plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma
AT topouridouk plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma
AT karabatsasch plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma
AT pefkianakim plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma
AT deangelismm plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma
AT tsironiee plasmahomocysteineandgeneticvariantsofhomocysteinemetabolismenzymesinpatientsfromcentralgreecewithprimaryopenangleglaucomaandpseudoexfoliationglaucoma