A Family-based Association Study Of The MDGA1Gene Polymorphisms And Schizophrenia

The MDGA1gene maps to6p21.2，within the schizophrenia linkage region6p22.3-p21.1，which has been confirmed in a large meta-analysis of genome-widelinkage scans of schizophrenia patients. Recent case-control study showed thatMDGA1is one of susceptibility genes of schizophrenia. In order to investigate therelationship between the MDGA1gene and schizophrenia in Chinese han population.We carried out a association study between the single nucleotide polymorphism (SNP)of MDGA1gene and schizophrenia.36trios(composed each one by normal parents and a single affected offspring)，a total of108cases were collected，all of Han Chinese origin. genotyped6SNPs(rs6900617、rs11759115、rs7769372、rs9462341、rs12191311and rs804831) inMDGA1，by using Multiplex PCR，Multiplex LDR analysis. The genotype frequencyof each SNPs distribution was tested for Hardy-Weinberg(H-W) equilibrium by thegoodness-of-fit χ~2test. The Transmission disequilibrium test(TDT) and haplotyperelative risk(HRR) analysis were used by The Family Based Associatin Test (FBAT)software，version2.0.4.The genotype frequency distributions of each SNPs in the patient group andparent group were not deviated from the H-W equilibrium，except rs6900617andrs7769372in patient group，the value of Chi square, is respectively6.506and3.992,show statistical differences in this two loci. the rs9462341locus was associated withschizophrenia in the female patients group（χ~2=4.125，df=1，P<0.05）. Therefore，in further analysis， the TDT and HRR analysis for the rest of the four loci(rs12191311、rs11759115、rs804831and rs9462341), In additive model、recessivemodel，the TDT showed the allele of rs9462341transmitted from heterozygoticparents to affected offspring(p=0.015777、0.005960,respectively)，T-allele was passedtoo much to the patient, is risk factor for schizophrenia.In dominant model，A-allelewas significantly associated with schizophrenia (p=0.005960)，The correspondingvalue of z is-2.750，It means that A-allele is protective factor for schizophrenia. We did not find any association between the remaining loci (rs12191311、rs11759115、rs804831)and schizophrenia. haplotype C/T/T/A，comprised of these four SNPs（rs12191311、rs11759115、rs804831and rs9462341）was significantly associatedwith schizophrenia （z=0.049861,p=0.049861）.Conclusion1.rs9462341was significantly associated with schizophrenia,as T-allele waspassed too much to the patient, is risk factor for schizophrenia and A-allele isprotective factor for schizophrenia.2.Haplotype C/T/T/A，comprised of the rs12191311、rs11759115、rs804831and rs9462341was significantly associated with schizophrenia.3.rs9462341allele was statistically significant difference in female group,showed that the rs9462341locus was associated with schizophrenia in the femalepatients group.4.no evidence of association was found in rs12191311、 rs11759115andrs804831.5. The polymorphisms at the MDGA1gene is likely to be linked with geneticsusceptibility to schizophrenia.