1 郑州大学附属儿童医院康复科，河南省儿童医院，郑州儿童医院，郑州 450000
Correlation between gene polymorphism of MTHFR gene C677T locus, 5-HTTLPR and autism in Han nationality children
This work was supported by the Medical Science and Technology Program of Henan Province (201503236, 201702323) and Science and Technology Development Plan Project of Henan Province (182102310403)
Objective: To investigate the relationship between the gene polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene C677T locus, the serotonin transporter promoter (5-HTTLPR) and autism in Han nationality children. Methods: A total of 68 children with autism diagnosed at the rehabilitation clinic of Children’s Hospital Affiliated to Zhengzhou University from February 2015 to January 2018 and 100 healthy children who underwent physical examination in the same period were selected as the study subjects. The gene polymorphism of MTHFR gene C677T and 5-HTTLPR in the 2 groups were analyzed. The differences in genotype and gene frequency were compared between the 2 groups. The relationship between genes and diseases was analyzed. Results: The proportion of TT and CT types in the C677T locus of MTHFR gene in the case group was significantly higher than that in the control group (P<0.05). The frequency of T allele in the case group was significantly higher than that in the control group (P<0.05). There was no significant difference in genotype frequency of 5-HTTLPR locus between the 2 groups (P>0.05). Logistic regression analysis showed that the C677T locus of MTHFR gene was associated with autism under the recessive genetic model (P<0.05), the C677T locus of MTHFR gene was associated with autism under the allelic model (P<0.05). Conclusion: The polymorphism of MTHFR gene C677T locus is associated with autism, while the polymorphism of 5-HTTLPR locus is not associated with autism in children.
methylenetetrahydrofolate reductase; mononucleotide; polymorphism; autism; 5-serotonin transporter promoter