Association study of DNA methylation statue in 5' regulatory region of the ESR2 gene with autism

Objective A case-control study was performed to explore the association between DNA methylation statue of the Estrogen Receptor Beta (ESR2) gene and autism,which could imply an evidence of autism etiology.Methods A random sample of 54 boys with autism and 54 normal boys was performed DNA methylation in 5' regulatory region of the ESR2 gene by Bisulfite Sequencing PCR.The different DNA methylation between autism and control was compared by Mann-Whitney U-test.Results The DNA methylation of the entire 5' regulatory region in the ESR2 gene showed no difference between autism and control (P>0.05).Prom CGI contains 15 CpG sites,in which 7 CpG sites (CpG 5,6,8,9,10,11 and 12) were hypermethylation in the autism group (P<0.05).Most of these sites were in the motifs for transcription factor binding sites,including USF2,ZBTB33,REL,ESR2 and TFEC.Among 26 CpG sites in the Exon CGI,CpG 41 was hypermethylation in the autism group (P<0.05).Conclusion The present study provides insight into the common genetic variation in ESR2 gene in autism through an epigenetic mechanism.