P.1.a.003 Epigenetic regulation at the FKBP5 genetic locus by age and depressive phenotypes: implications for age-related disease

Abstract

were excluded from this study. One hundred and nineteen voluntary controls were recruited from the personnel and medical students of the Yeouido St. Mary’s Hospital. Before blood sample collection, a semi-structured interview was performed to determine whether the control subjects had current psychiatric problems, or had history of psychiatric or neurological illness. All subjects were biologically unrelated and were native Koreans residing in the Republic of Korea. Genomic DNA was extracted from blood by standard methods and quantified. The high-throughput genotyping method using pyrosequencer (Biotage AB, Uppsala, Sweden) was used for genytyping four single nucleotide polymorphisms (rs2306987, rs2306990, rs2637777 and rs2304865) within the FAT gene, which were selected based on public database (National Center for Biotechnology Information, dbSNP, http://www.ncbi.nlm.nih.gov/SNP) and data from previous studies. Haploview 4.2 was used to generate a linkage disequilibrium (LD) map and to test for Hardy–Weinberg equilibrium (HWE). Association for single markers and clinical variables were performed using the chi-square, t-test and the analysis of variance. Test for associations using multimarker haplotypes were performed using the statistics software ‘R’ (http://www.R-project.org), package ‘haplo.stat’. Results: Significant association at the rs273777 with schizophrenia was observed; however, rs2306987, rs2306990, and rs2304865 were not associated with schizophrenia. Haplotype analyses revealed that the haplotype A/T/T/G was associated with a significantly protective effect. Sliding window analysis (rs2637777 G/T and rs2304865 G/C) revealed the more common T/G haplotype, included in the A/T/T/G protective combination, showed a small protective effect, in particular the effect was due to the rs273777 T variant (minor allele). Conclusion: The present finding suggests that FAT polymorphism may play a putative role in the susceptibility to schizophrenia in the Korean population. Further studies using a larger number of subjects should be performed to determine whether the FAT gene polymorphism may be truly involved in the development of schizophrenia.