The Association Study Of FTSJ1 Polymorphism With The Mental Retardation Of Children In QinBa Area

Mental retardation is a human mental disorder characterized by low cognition and weak social adaptability. The incidence of MR is estimated currently around 1-3% in some countries and regions among children. The Qinba mountain region, which is one of the higher MR prevalence areas in China, has a characteristic of family aggregation and affected by certain genetic factors. Therefore, it is very important and practical to make clear the genetic pathogeny of MR in Qinba region.FTSJ1 is an MR gene identified recently. So far, reports about the association of FTSJ1 gene with MR are all family-based studies using linkage analysis. Most of the mutations identified in the FTSJ1 gene are single site mutations and the population is European. Association between FTSJ1 gene variations and MR in the Chinese Han population has not been reported. In the study, three common SNPs (rs2268954, rs2070991, rs5905692) were chosen as genetic markers and a case-control study was conducted to investigate the association of FTSJ1 gene with MR of children in Qinba mountain region. The PCR-SSCP method was used in the genotyping of the three SNPs above. The relationship between the FTSJ1 gene and MR children in QinBa region were assessed by the single-site and haplotype association analysis.The results of single locus analysis showed, in the male group, there were statistical differences in allele frequencies between MR cases and controls for all the three SNPs (p=0.036, p=0.043, p=0.014). The global haplotype frequency also showed significant differences between cases and controls (p = 0.01236). However, no differences of allele or genotype or haplotype frequencies were observed between cases and controls at these three markers in the female group.The case-control study revealed a positive association of FTSJ1 with NS-XLMR in young males in Qinba region in China. Further research is needed to validate whether this association still exists in the Chinese Han population of other regions.