MTHFR rs1801133 Gene Polymorphism and Autism Susceptibility

Background: it is believed that environmental and genetic factors may be responsible for autism. methylenetetrahydrofolate reductase (mthfr) and its gene polymorphisms have been shown to be implicated as risk factors in autism. objectives: to analyze mthfr c677t polymorphism (rs1801133) in autistic patients. materials and methods: this study was carried out in 2014 and 2015 in northern iran. one hundred and seventy-one male autistic patients and 198 healthy males were included in this study. autism was diagnosed according to the diagnostic and statistical manual of mental disorders, 4th edition (dsmiv) criteria. each autism spectrum disorder (asd) patient was also evaluated by the childhood autism rating scale (cars). all participants were tested for c677t polymorphism by using polymerase chain reaction-restriction fragment length polymorphism (pcr-rflp) method. statistical analyzes were performed using medcalc version 12.1 by the χ2 test and logistic regression model. a value of p<0.05 was considered statistically significant. results: the mean age±sd of case and control groups was 13.5±2.7 and 15.6±3.7 years. the mean±sd of cars score was 36.2±1.7. the genotype frequencies of cc, tc, and tt in children with autism were 50.9%, 45.6%, and 3.5%, respectively, and in control group were 54.5%, 44.0%, and 1.5%, respectively (p>0.05). the allele frequencies of c and t in children with autism were 73.0% and 27.0%, and in control group were 76.0% and 24.0%, respectively (p>0.05). conclusion: mthfr c677t polymorphism is not associated with autism in a population in the north of iran.