Research CMYA5 Schizophrenia Genetic Association Studies And CPF Pedigree Sites

Generally genetic diseases is the genetic materials DNA changes or chromosomal abnormalities, which can be divided into five categories, such as chromosomal disease, mitochondrial genetic disease, body cell genetic disease, simple disease and complex diseases. This study focused on the reserach of a simple disease (congenital preauricular fistula) and a complex diseases (schizophrenia).Schizophrenia (MIM181500) has a lifetime risk of approximately1%and is characterized by Continuous, chronic. Genetic factors account for more than80%of the variance in susceptibility. Recently, CMYA5was suggested as a susceptibility gene for schizophrenia based on two independent studies utilizing different ethnic samples (European origin and American people of African descent). CMYA5was located in chromosome5q14.1in humans, expressed in skeletal and cardiac muscle, the brain was also expressed. Its specific role is unclear in the central nervous system. CMYA5may also be involved in the biogenesis of lysosome-related organelles complex1(BLOC-1) processes that have been suggested to be involved in schizophrenia. The interaction with the regulatory subunit of protein kinase A suggests that CMYA5may be involved in the regulation of cAMP signal pathway, which is also implicated in schizophrenia.A case-control study was designed to examine whether21SNPs contained within CMYA5were associated with the disorder in a western Han Chinese sample comprised of488schizophrenia patients and516healthy control subjects. The allele distribution of SNPs rs7714250, rs16877135and rs13158477showed significant association with schizophrenia (Puncorrected=0.008, Puncorrected=0.04, and Puncorrected=0.009, respectively) as well as the genotype distribution in the Cochran-Armitage trend test (Puncorrected=0.008, Puncorrected=0.037and Puncorrected=0.011, respectively). After Bonferroni correction, rs7714250showed a trend of association with schizophrenia both in allele distribution (Pcorrected=0.088) and genotype distribution (Pcorrected=0.088). Furthermore, significant associations were found in several two-, three-, four-, and five-SNP tests of haplotype analyses. Replications of the association of CMYA5with schizophrenia across various studies suggest that it is very likely a potential common schizophrenia-related gene worldwide. Functional studies correlating CMYA5with DTNBP1and PKA warrant further investigation of the molecular basis of this gene in relationship to the signal transduction pathway(s) underlying the pathogenesis of schizophrenia.Congenital preauricular fistula (CPF) is a common autosomal dominant congenital malformation, the estimated incidence is0.1%to10%. preauricular fistula occurs during embryogenesis. There are three Disease-causing gene locus (8q11.1-q13.3,1q32-q34.3,14q31.1-q31.3) have been reported.Two patients with congenital preauricular fistula were founded in clinical work, further investigation indicated that this is a pedigree genetic disorder. linkage analysis wsa used to analysis a Chinese family suffered from CPF on the three known locus. The results shows that the six Microsatellite markers on8q:D8S532, D8S285, D8S1113, D8S260, D8S1136and D8S279all give LOD score less than-2when theta=0. The other two candidate regions:1q32and14q31also give the same result, and shows no linkage. Indicated that there is a new Disease-causing gene in this family, the Congenital preauricular fistula (CPF) may has higher genetic heterogeneity.