Association of MTHFR Gene with Type 2 Diabetes Mellitus: A Case-Control Study and Meta-Analysis

Area of Science:

• Genetics
• Metabolic Diseases
• Population Health

Background:

• Genetic variations in the methylenetetrahydrofolate reductase (MTHFR) gene are linked to type 2 diabetes mellitus (T2DM) susceptibility.
• Previous studies present conflicting results regarding the association between MTHFR gene polymorphisms and T2DM risk.

Purpose of the Study:

• To investigate the relationship between MTHFR gene single nucleotide polymorphisms (SNPs), specifically C677T and A1298C, and genetic susceptibility to T2DM.
• To conduct a meta-analysis evaluating the association between the MTHFR C677T polymorphism and T2DM.

Main Methods:

• A case-control study was performed to assess MTHFR polymorphisms (C677T and A1298C) and T2DM risk.
• A meta-analysis of 7 studies was conducted using Stata 17.0 software to evaluate the MTHFR C677T gene association with T2DM.

Main Results:

• The MTHFR C677T polymorphism (rs1801133) was significantly associated with an increased risk of T2DM in the case-control study (OR = 1.605).
• No significant association was found for the MTHFR A1298C polymorphism (rs1801131) with T2DM risk after adjusting for covariates.
• Meta-analysis revealed significant heterogeneity for C677T in recessive and allele models; subgroup analysis indicated a significant association in Asians (OR = 2.27) under random-effects models.

Conclusions:

• The MTHFR C677T polymorphism may influence T2DM susceptibility, with effects potentially dependent on ethnicity.
• The findings suggest a notable association between the MTHFR C677T polymorphism and T2DM risk specifically within Asian populations.