Şizofreni hastaları ve ailelerinde APH1B geni üzerindeki bir haplotipin genetik araştırılması

Schizophrenia is a severe psychotic complex-multifactorial disease. APH1B gene is one of the gene with a potential of association to schizophrenia. Previously, two single nucleotide polymorphisms (SNPs) rs117618017 and rs1047552 in the APH1 gene were suggested to have effects on the development of disease in a case only study. In this study, we tested the association of these two SNPs in a group of family trios from Malatya-Türkiye. We designed our study in family based association test (FBAT) format. We screened the genotypes of 2 SNPs in a sample consisted of 25 schizophrenia patients and their unaffected parents collected from a local Turkish population. We tested the disease associations of these variants at single SNP, haplotype and diplotype levels. The results of our study indicated there were no genetic associations were found in our tests between the APH1B SNPs rs117618017 and rs1047552 and the schizophrenia phenotype. Since the sample we have used in this study was collected from a relatively small geographic area, and the numbers of family trios were limited, the associations of two SNPs we have screened require to be tested in larger patient groups. Key Words: APH1B, Association, Genetic Association, Schizophrenia, Genetics, SNP, Haplotype, Diplotype, FBAT.