Association Study Between The Polymorphisms Of FACL4 Gene And The Mental Retardation Of Children In QinBa Area

The Qin-Ba mountain region is a relatively isolated area of northwest China and is also one of the higher MR prevalence areas in China. The investigation showed that familial clustering was found in the Qin-Ba mountain region. This indicates that genetic factors may contribute to MR disorders. Therefore, it is a very important and practical thing to make clear the genetic pathogeny of MR in Qinba area.Long chain fatty acid-CoA ligase 4 is the first gene shown to be involved in mental retardation and fatty-acid metabolism. According to linkage analysis and PCR sequencing technology, FACL4 gene mutations in three Italian MR pedigrees have been reported as causing non-specific mental retardation. To investigate the possible genetic contribution of the FACL4 gene to non-specific mental retardation children of the Qin-Ba mountain region in China, after considering the existing experimental samples and experimental conditions and other factors, we performed an association study of 556 subjects (118 NSMR, 116 borderline NSMR, and 322 controls) from the Han children of northwestern China using five common SNPs (rs5943427,rsl2856122, rs5943418, rs7886473, and rs10126612) in the gene.No significant differences of genotypes and alleles frequencies from each single SNP between NSMR and controls were observed. Pairwise linkage disequilibrium analysis showed that four SNPs rs5943427, rsl2856122, rs5943418, and rs7886473 were in strong linkage disequilibrium; therefore, a haplotype analysis was performed. However, there were no any significant differences in haplotype distributions between cases and controls. In conclusion, we have found no evidence for the FACL4 gene conferring susceptibility on non-specific mental retardation children of the Qin-Ba mountain region in China.