Association Analysis Between The SNP Polymorphism Of DLG3 Gene With Children's Mental Retardation In QinBa Mountain Area

Mental retardation is a human mental disorder and effected by certain genetic factors.It is a very important and practical thing that to make clear the genetic pathogeny of MR in Qinba area.Discs-Large-Related 3(DLG3),a member of the membrane-associated guanylate kinases(MAGUKs)protein family,playing an important role in regulate NMDA signal pathway and contributing to synaptic plasticity,may have an influence on the susceptibility of non-syndromic mental retardation(NSMR).To investigate the association between DLG3 polymorphisms and the NSMR in Chinese Han population,a case-control analysis was made with a sample of 556 people from Qin-Ba mountain region of Shaanxi province in northwest China and five common SNPs spanning the entire DLG3 gene were genotyped.The results of single-locus analysis showed a positive association between the genetic variation of SNPs rs2281868,rs2404469 and NSMR(P=0.020,P=0.043).Linkage disequilibrium and haplotype blocks analysis were performed by Haploview 4.0.Two haplotype blocks were identified,and only the blockl showed significant results(Global P= 0.028).In conclusion,the results of this study indicated that DLG3 may associate with NSMR in Chinese Han population.However,further studies are necessary to substantiate this conclusion.