Methylenetrahydrofolate Reductase Gene C677T Polymorphism and Diabetic Retinopathy: a Meta-Analysis

Area of Science:

• Genetics
• Ophthalmology
• Metabolic Diseases

Background:

• Diabetic retinopathy (DR) is a leading cause of vision loss in diabetic patients.
• The methylenetetrahydrofolate reductase (MTHFR) gene plays a crucial role in folate metabolism.
• The C677T polymorphism in the MTHFR gene may influence susceptibility to various diseases.

Purpose of the Study:

• To investigate the association between the MTHFR C677T polymorphism and the risk of developing diabetic retinopathy.
• To analyze the MTHFR C677T polymorphism's effect on DR risk across different genetic models and control groups.

Main Methods:

• A meta-analysis was conducted, pooling data from 23 studies involving 6971 participants (2707 DR patients and 4264 controls).
• Random-effects models were used to estimate overall and stratified effects of the MTHFR C677T polymorphism on DR risk.
• Study quality was assessed to ensure the reliability of the findings.

Main Results:

• Significant associations were found between the MTHFR C677T polymorphism and DR, particularly when compared to healthy controls and non-complicated diabetes mellitus (Ncd) groups.
• Carriers of the MTHFR C677T polymorphism showed an increased risk of DR in allele contrast (OR=1.68), homozygous (OR=2.55), and dominant (OR=2.31) models versus healthy controls.
• The association remained significant in various models when compared to the Ncd group, with odds ratios ranging from 1.50 to 2.39.

Conclusions:

• The MTHFR C677T polymorphism is associated with an increased risk of diabetic retinopathy.
• This genetic variation may play a role in the pathogenesis of DR, especially in individuals with diabetes.
• Further research is warranted to elucidate the precise relationship and potential clinical implications.