ABSTRACT
Objective To investigate the association between the patients with schizophrenia and polymorphism in rs2030324 and rs11030101 of brain derived neurotrophic factor(BDNF).Methods 100 patients with schizophrenia and 100 normal controls were enrolled.The BDNF polymorphism (rs2030324 and rs11030101) and allele frequency were genotyped by sequencing the products of PCR.Genotype and allele frequencies were compared between patients and controls.Symptoms were assessed using the PANSS,and the relationship between the score of PANSS and the polymorphism of rs2030324 and rs11030101 was analyzed.Results There was statistically significance between schizophrenic patients and controls in the distribution of allele frequency in rs2030324(x2 =3.888,P=0.049) and rs11030101 (x2 =5.571,P=0.016).There was statistically significance between schizophrenic patients and controls in the distribution of implicit model in rs11030101 (x2=5.230,P=0.022).The score of PANSS negative symptoms of patients with SNPs rs11030101 different genotypes showed that A/T genotype was the highest(34.60±5.63) and T/T genotype was minimum (28.38±9.96),and the difference had statistical significance (F=4.868,P=0.010).Conclusion The polymorphism in rs2030324 and rs11030101 of BDNF is relate to the patients with schizophrenia among Han Chinese and their allele A increases the risk of illness.The SNP of rs11030101 may be associated with the clinical features of schizophrenia.
ABSTRACT
Objective To investigate the susceptibility related sites to schizophrenia through whole genome analysis combined with bioinformatics analysis method.Methods The research was carried out by two stages.In the first stage,300 cases of schizophrenia and 300 healthy controls were enrolled,and 5ml pe-ripheral venous blood was drawn to extract genome DNA.After quality control and concentration adjustment by ultraviolet spectrophotometer,equal mass of DNA was mixed into DNA pooling for case group and control group respectively.Genome-Wide Human SNP Array 6.0 chips were used to detect the polymorphism of the SNP.Plink software was used to locate the differential SNP to genes.GSEA was used to analyze the gene to pathway.Ten loci with the smallest P value of screened pathway were chosen as investigated subjects.In the second stage,240 schizophrenias and 200 healthy controls were collected to gain the genome DNA to verity the genotype of the 10 loci.Results Many single nucleotide polymorphism loci which P<9.2×10-8were found in GWAS.The GSEA pathway analysis showed that the axon guidance pathway was significantly related to the incidence of schizophrenia.The distribution of rs4632195 genotypes involved the distribution of among 10 loci(χ2=11.484,P=0.003)and alleles(χ2=8.824,P=0.009)were statistically significant,and T al-lele was susceptibility genes of schizophrenia(OR=1.537,95%CI:1.157-2.203).Conclusion rs4632195 of DCC gene in the axon guidance pathway is associated with schizophrenia,and the T allele is associated with susceptibility to schizophrenia.