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Association of MTHFR gene C677T Polymorphism with Autism

Captured 2023-03-30
Document Highlights

Numerous articles reported that dysfunctional folate-methionine pathway enzymes may play an important role in the pathophysiology of autism. Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme of this pathway and MTHFR C677T polymorphism reported as risk factor for autism in several case control studies.

[T]he present meta-analysis was designed to investigate the relationship of the MTHFR C677T polymorphism with the risk of autism. Electronic databases were searched for case control studies… and used as association measure to investigate the association between MTHFRC677T polymorphism and risk of autism.

Meta-analysis using all four genetic models showed significant association between C677T polymorphism and autism.

In total 13 studies, 9 studies were from Caucasian population and 4 studies were from Asian population. The association between C677T polymorphism and autism was significant in Caucasian and Asian population