TY  - JOUR
TI  - 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?
AB  - 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.
Materials and Methods: Two hundred twenty-two patients with ASD and 323 neurotypical controls were included in this study. PCR and Restriction Fragment Length
Polymorphism method was used for screening the C677T. The PHGDH gene was scanned
in the groups by targeted next-generation sequencing carrying C677T variant as homo-or
heterozygous. Allele and genotype distributions of the C677T were analyzed by using
the chi-square test. Genotype distributions were analyzed according to all four possible
genetic models; homozygote (TT vs CC), heterozygote (CT vs CC), dominant (TT+CT
vs CC), and recessive (TT vs CT+CC).
Results: There was not any significant difference in terms of C and T allele distributions
between ASD and controls (T vs C: OR = 1.16, 95% CI = 0.89-1.5, p > 0.05). There were
not any significant different distributions of the 4 possible genotypes. In possible combined
effects of the C677T and rare and possibly harmful SNVs of the PHGDH in the genetic
etiology of ASD, we could not find any differences between patients and controls.
Conclusion: No data were found to support that the MTHFR C677T variant alone or in
combination with rare variants of the PHGDH gene is a genetic risk factor in the etiology
of ASD.
AU  - TORAMAN, Bayram
AU  - Kasap, Burak Kaan
AU  - Bilginer, Çilem
AU  - YILDIZ, Gokhan
DO  - 10.5455/annalsmedres.2021.06.438
PY  - 2022
JO  - Annals of Medical Research
VL  - 29
IS  - 4
SN  - 2636-7688
SP  - 334
EP  - 340
DB  - TRDizin
UR  - http://search/yayin/detay/517877
ER  -