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Is the MTHFR C677T variant a genetic risk factor in the etiology of autism spectrum disorder? Is it alone or by combined with rare variants of the PHGDH gene?
2022
Journal:  
Annals of Medical Research
Author:  
Abstract:

Aim: Autism spectrum disorder (ASD) is a group of diseases characterized by restricted interests, speech disorders, lack of reciprocal social communication. Genetic factors are predominantly responsible for the etiology of ASD. ASD genetics is complex and heterogeneous, and a variety of genetic factors has been associated with ASD. The C677T in the methylenetetrahydrofolate reductase (MTHFR) gene has been associated with the increased genetic liability for ASD in many studies. In the present study, we asked whether the MTHFR C677T variant increases the risk of ASD alone or in combination with rare harmful SNVs (MAF values are ≤ 0.001) on the phosphoglycerate dehydrogenase gene (PHGDH) in the genetic etiology of ASD.

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2022
Journal:  
Annals of Medical Research
Author:  
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Annals of Medical Research

Field :   Sağlık Bilimleri

Journal Type :   Uluslararası

Metrics
Article : 3.232
Cite : 295
2023 Impact : 0.008
Details
Annals of Medical Research