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亚甲基四氢叶酸还原酶基因中的C677T多态性与原发性闭角型青光眼相关。

C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary closed angle glaucoma.

作者信息

Michael Shazia, Qamar Raheel, Akhtar Farah, Khan Wajid Ali, Ahmed Asifa

机构信息

Department of Biosciences, Comsats Institute of Information Technology, Islamabad, Pakistan.

出版信息

Mol Vis. 2008 Mar 26;14:661-5.

DOI:
PMID:18385801
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2277437/
Abstract

PURPOSE: To determine whether or not there is an association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with disease in cohorts of primary open-angle glaucoma (POAG) and primary closed-angle glaucoma (PCAG) from Pakistan. METHODS: This was a prospective study consisting of 150 patients (90 POAG and 60 PCAG) and 70 control subjects. Genomic DNA was extracted from leukocytes of the peripheral blood. MTHFR C677T polymorphism analysis was performed by the polymerase chain reaction-restriction fragment length polymorphism (RFLP) technique. RESULTS: The prevalence of the MTHFR C/T genotype was 22.2% in POAG, 13.3% in PACG, and 18.6% in controls whereas the MTHFR T/T genotype was present solely in the PACG group (6.9%). The difference regarding the T/T genotype between PACG and controls was statistically significant (p<0.01). CONCLUSIONS: The MTHFR C677T polymorphism was found to be associated with PCAG but not POAG in patients of Pakistani origin.

摘要

目的：确定巴基斯坦原发性开角型青光眼（POAG）和原发性闭角型青光眼（PCAG）队列中，亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性与疾病之间是否存在关联。 方法：这是一项前瞻性研究，包括150例患者（90例POAG和60例PCAG）和70名对照者。从外周血白细胞中提取基因组DNA。采用聚合酶链反应-限制性片段长度多态性（RFLP）技术进行MTHFR C677T基因多态性分析。 结果：POAG中MTHFR C/T基因型的患病率为22.2%，PACG中为13.3%，对照组中为18.6%，而MTHFR T/T基因型仅存在于PACG组（6.9%）。PACG与对照组之间T/T基因型的差异具有统计学意义（p<0.01）。 结论：在巴基斯坦裔患者中，发现MTHFR C677T基因多态性与PCAG相关，但与POAG无关。

相似文献

[1]
C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary closed angle glaucoma.

Mol Vis. 2008-3-26

[2]
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Mol Vis. 2009-11-9

[3]
Association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with primary glaucoma in Saudi population.

BMC Ophthalmol. 2016-9-1

[4]
MTHFR C677T predisposes to POAG but not to PACG in a North Indian population: a case control study.

PLoS One. 2014-7-23

[5]
Methylenetetrahydrofolate reductase gene polymorphisms c.677C/T and c.1298A/C are not associated with open angle glaucoma.

Mol Vis. 2006-7-7

[6]
Methylenetetrahydrofolatereductase (MTHFR) 677C>T polymorphism and open angle glaucoma.

Mol Vis. 2006-4-17

[7]
Lack of association between the C677T single nucleotide polymorphism of the MTHFR gene and glaucoma in Iranian patients.

Acta Med Iran. 2012

[8]
Association between MTHFR C677T polymorphism and primary open-angle glaucoma: a meta-analysis.

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[9]
Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts.

Mol Vis. 2010-1-11

[10]
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引用本文的文献

[1]
Genetic association of single nucleotide polymorphisms in PLEKHA7 gene with primary angle closure glaucoma (PACG) in a Central-Eastern Punjab cohort of Pakistan.

Mol Biol Rep. 2025-2-4

[2]
Association of MTHFR C677T polymorphism with primary open angle glaucoma: a Meta-analysis based on 18 case-control studies.

Int J Ophthalmol. 2021-6-18

[3]
Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment.

Ann Saudi Med. 2021

[4]
Risk of Recurrent Pregnancy Loss in the Ukrainian Population Using a Combined Effect of Genetic Variants: A Case-Control Study.

Genes (Basel). 2021-1-5

[5]
Association of MTHFR C677T and A1298C Polymorphisms with Glaucoma Risk: a Systematic Review Meta-Analysis based 42 Case-Control Studies.

Rom J Ophthalmol. 2019

[6]
CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.

Mol Biol Rep. 2018-6

[7]
Genotyping the High Altitude Mestizo Ecuadorian Population Affected with Prostate Cancer.

Biomed Res Int. 2017-6-8

[8]
Primary Angle Closure and Sequence Variants within MicroRNA Binding Sites of Genes Involved in Eye Development.

PLoS One. 2016-11-8

[9]
Association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with primary glaucoma in Saudi population.

BMC Ophthalmol. 2016-9-1

[10]
Breast cancer risk associated with gene expression and genotype polymorphisms of the folate-metabolizing MTHFR gene: a case-control study in a high altitude Ecuadorian mestizo population.

Tumour Biol. 2015-8

本文引用的文献

[1]
G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences.

Behav Res Methods. 2007-5

[2]
Investigation of the association between 677C>T and 1298A>C 5,10-methylenetetra- hydrofolate reductase gene polymorphisms and normal-tension glaucoma.

Eye (Lond). 2009-1

[3]
Methylenetetrahydrofolate reductase genetic polymorphisms in patients with primary open-angle glaucoma.

Ophthalmic Genet. 2007-6

[4]
The association of single nucleotide polymorphisms in the MMP-9 genes with susceptibility to acute primary angle closure glaucoma in Taiwanese patients.

Mol Vis. 2006-10-26

[5]
Methylenetetrahydrofolate reductase gene polymorphisms c.677C/T and c.1298A/C are not associated with open angle glaucoma.

Mol Vis. 2006-7-7

[6]
The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from Iowa.

Ophthalmic Genet. 2006-6

[7]
Methylenetetrahydrofolatereductase (MTHFR) 677C>T polymorphism and open angle glaucoma.

Mol Vis. 2006-4-17

[8]
The number of people with glaucoma worldwide in 2010 and 2020.

Br J Ophthalmol. 2006-3

[9]
C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma.

Am J Ophthalmol. 2005-4

[10]
The trabecular meshwork in acute and chronic angle closure glaucoma.

Indian J Ophthalmol. 2001-12

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