Reassessment of MTRR rs1801394 Polymorphism and Neural Tube Defects Risk

What is it about?

This study provides an updated and comprehensive reassessment of the association between the MTRR gene polymorphism rs1801394 and the risk of neural tube defects (NTDs). The MTRR gene encodes methionine synthase reductase, a key enzyme in folate and homocysteine metabolism, pathways known to be critical in neural tube development. Given prior inconsistent findings on the role of rs1801394 in NTD susceptibility, this study systematically re-evaluates the evidence using rigorous meta-analytic techniques across diverse populations. The analysis aims to clarify the genetic contribution of MTRR rs1801394 to NTD risk and to support or challenge its relevance as a potential genetic marker in prenatal risk assessment. The findings enhance understanding of the complex genetic factors influencing NTDs and provide guidance for future research and public health strategies in birth defect prevention.

Featured Image

Photo by Maxim Potkin ❄ on Unsplash

Photo by Maxim Potkin ❄ on Unsplash

Why is it important?

Neural tube defects (NTDs) are among the most common and serious congenital malformations, contributing significantly to neonatal morbidity and mortality worldwide. While folate supplementation has reduced NTD incidence in many populations, genetic factors that influence folate metabolism. The MTRR rs1801394 polymorphism has been extensively studied, but conflicting results across populations and study designs have led to uncertainty about its true role in NTD risk.

Perspectives