Relationship Between Oxytocin Receptor Gene Polymorphism With Children With Autism

Objective:To investigate the relationship of two single nucleotide polymorphisms (SNPs, rs2254298 and rs237911) of OXTR with childhood autism, and provide theory base for pathogenesis,early prevention and cure of childhood autism.Method:Polymerase chain reaction-restricted fragment length polymorphism(PCR-RFLP) was used to determine allele and genotype of two SNPs of OXTR in 30 Chinese Han autism children. Autism Behavior Checklist(ABC) and Childhood Autism Rating Scale(CARS) were used to evaluate clinical symptom. The data was analysed by X2-test,ANOVA.Result:1.The autism group and control group were all consistent with the Hardy-Weinberg equilibrium(P>0.05).There was significant difference in the distributions of the allelic frequencies and genotypes of rs2254298 and rs237911 between the two groups(P<0.05).2.There was significant difference in ABC scores in different genotypes of rs2254298 and in communication scores of subscale between genotype A/A and A/G(P<0.05),but no significant difference in the other subscales'scores between different genotypes(P>0.05).There was no significant difference between different genotypes of rs237911.3.There was no significant difference in mild-medium and severe of CARS scores between different genotypes of rs2254298(X2=0.153,P=0.696),and significant difference was found in activity scores of subscale between genotypes A/G and G/G(t=2.762,P=0.011),but no significant difference was found in the other subscales scores(P>0.05). There was no significant difference in mild-medium and severe of CARS scores between different genotypes of rs237911(X2=1.838,P=0.765),and significant difference was found in affection and total scores between genotype A/A and A/G(t1=2.546,P1=0.016;t2=2.279,P2=0.011),and also in ability of body operation scores between genotypes A/A and G/G (t=2.889,P=0.011),and no significant difference was found in the other subscales scores(P>0.05).Conclusion:1.There was association between two SNPs(rs2254298 and rs237911) of OXTR and childhood autism.2.Genotypes of rs2254298 had influence on ABC total scores,and genotype A/A and A/G had influence on communication. Genotypes of rs237911 had no influence on ABC total scores and subscales'scores.3. Genotypes of rs2254298 had no influence on mild-medium and severe of CARS scores,and genotype A/G and G/G had influence on activity. Genotypes of rs237911 had no influence on mild-medium and severe of CARS scores,and had influence on affection,ability of body operation and total scores.