Association Study Of GRIN2B With Autism In Chinese Han Population

Autism is a brain developmental disorder which seriously affects children’s health, the genetics factors are predominant in the pathogenesis through familial relative risk and twin studies. Autism is a " synapses disease". NMDAR is the main regulator of synaptic plasticity in the central nervous system, LTP of cerebral cortex and hippocampus neurons, NR2subunits is the function regulator of NRMDR, The NR2B base is encoded by GRIN2B. Some studies show that GRIN2B may play an important role in the onset of schizophrenia, neural degenerative diseases and autism.Aim:association study of GRIN2B with autism in Chinese Han Population.Method:First get core family group and sporadic autism patients group of DNA for chip samples scan and genome-wide association analysis; We screening mutations in GRIN2B area with autism patients, not reported mutation analysis including whether de nove or not, detect variants in control group, conservative analysis; the MAP>0.01common variants performed in case-control association studies, MAF<0.01rare variants pergormed in rare variants of frequency analysis.Results:We found22SNPs associated with autism significantly (P<0.05) located in GRIN2B area in our GWAS research. Sequencing the GRIN2B sequence was performed in272Chinese han autism patients to detect variants.we found19variants in all,10SNPs been reported, and not reported variants include3introns-variations,4synonymous mutations and2missense mutations, both of missense mutations are inherited from their normal phenotypic father, but not detected in control grounp. Analysis amino acid sequence conservation of the two missense mutations shows greater sequence conservation conservative, suggest the two mutations have important physiological or genetic role. Rare variants analysis found that there are no difference between autism group and control group in GRIN2B area. According to the analysis of the incidence of common variants, three SNPs show significant difference in allele frequency and genotype frequency between the autism group and control group.Conclusion:GRIN2B may be one of autism susceptibility genes in Chinese han nationality population.