An association study between genetic polymorphism of APP gene and pediatric bipolar disorder of Han nationality / 中华行为医学与脑科学杂志

ABSTRACT

Objective:To explore the association between genetic polymorphism of APP gene and bipolar disorder(BD) in children and adolescents for seeking suitable single nucleotide loci(SNP), and provide reference for early diagnosis and intervention of children and adolescent BD.Methods:The genomic DNA of peripheral blood was extracted from 178 BD cases(case group) and 178 normal controls(control group) of Han children and adolescents.Four SNP loci of APP gene were selected and were analyzed by LDR-PCR SNP genotyping.Genotypes and allele differences were compared between the cases and control group by SPSS22.0 software.The software SHEsis was also used to make linkage disequilibrium and haplotype analysis.Results:The genotype frequency and allele frequency of the 4 SNP loci of APP gene were statistically significant different between the case group and the control group ( P<0.05). The association of s2040273, rs466433, rs463946, rs364048 with BD in the APP gene was statistically significant( P<0.05). The construction of 4 SNP haplotypes indicated that AACT, AGGC, and GACT accounted for more than 80% of the total.The percentage of haplotype AGGC in the case group(11.9%)was significantly higher than that in the control group(4.7%)( P<0.05), and the odds ratio of AGGC haploid was 2.727. Conclusion:Four SNP loci s2040273, rs466433, rs463946, rs364048 in the APP gene and haplotype AGGC are associated with BD in Han children and adolescents.These results confirmed that the APP gene is one of BD susceptible gene.