Investigation of the relationship between schizophrenia and Kremen1 gene

Objective and hypothesis: Schizophrenia is a chronic, debilitating psychotic and a serious disorder that affects about 1 percent of the world?s population and has symptoms that generally begin in late adolescence or early adulthood and usually continue throughout life. According to genetic studies, schizophrenia has heritability estimates of around 80%. Furthermore, schizophrenia is thought to be the neurodevelopmental disease. The Wnt signaling pathway plays a critical role in regulating this developmental process. The aim of our study was to examine the association of KREMEN1 to generate a biphasic (positive and negative) response in the wnt signaling pathway with schizophrenia.Method: Our subjects comprised 155 individuals, with 104 patients with schizophrenia and 51 healthy volunteers with no personal or family history of psychiatric illness. The KREMEN1 gene region in question was cloned by PCR and DNA sequence of this region was analyzed in order to investigate the SNPs, rs713526, rs116100643 and rs201088346 in the aforementioned gene, and then, genotypes were determined.Results: As a result of genetic analysis, heterozygous rs713526 G>A polymorphism was detected %26 and %12 in patients with schizophrenia and healthy controls respectively. There is a statistically significant difference between the two groups (p=0,042). Homozygous form of this polymorphism was not detected. In addition, the SNPs, rs116100643 and rs201088346 were not observed in our case and contr0l subjects.Conclusion: Results suggest that rs713526 G>A polymorphism in the KEMEN1 might be associated with risk of schizophrenia and contribute to susceptibility to disease. Although our results are suggestive of an association with schizophrenia at this locus, present study should be continued with a larger sample group.Keywords: Schizophrenia, Wnt pathway, KREMEN1, SNP