Objectives: This case-control study was undertaken to analyze the association between MTHFR C677T and A1298C polymorphisms and autism susceptibility in children of northeast China.
Methods: A total of 263 cases (3-13 years-old; 237 boys and 26 girls) with autism and 70 controls (3-6 years-old; 59 boys and 11 girls) were randomly selected from the northeast areas of China. Analysis of the polymorphisms was done using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and confirmed by direct sequencing.
Results:
The C677T mutation (CT or TT genotype) and A1298C mutation (AC or CC genotype) were confirmed by sequencing. And the CT + TT genotype of C677T was present in 52.85% of autistic children and in 14.29% of nonautistic children (OR=6.726,95% CI 3.30-13.70, P<0.005). The frequencies of MTHFR A1298C mutant genotypes (27.76 vs. 12.86%) were found to be higher in autistic group compared with nonautistic group with 2.604-fold increased risk for autism (95% CI 1.23-5.51, P<0.005). When the individuals were classified according to MTHFR genotypes as follows: individuals with mutant C677T and mutant A1298C; individuals with mutant C677T and wild-type A1298C; individuals with wild-type C677T and mutant A1298C; individuals with wild-type C677T and wild-type A1298C, gene combination analysis showed a significant statistic difference (P<0.05).
Conclusions:
These findings indicate that the polymorphisms of MTHFR C677T and A1298C genes may be a risk factor for autism in children of northeast China.
See more of: Epidemiology
See more of: Prevalence, Risk factors & Intervention