C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary closed angle glaucoma.
OBJECTIVE
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.
Michael
Shazia
S
Department of Biosciences, Comsats Institute of Information Technology, Islamabad, Pakistan.
Qamar
Raheel
R
Akhtar
Farah
F
Khan
Wajid Ali
WA
Ahmed
Asifa
A
D000368:Aged; D044466:Asian People / Q000235:genetics*; D003596:Cytosine; D005260:Female; D005838:Genotype; D015812:Glaucoma, Angle-Closure / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000235:genetics; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D010154:Pakistan; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D013941:Thymine
D003596:Cytosine; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013941:Thymine